Copy Number Variants / 1q21.1

1q21.1

Case population data
Control population data
Type
Deletion-Duplication
Average Length
896964
Range
145900678-147965543
Associated Human Genes
-
Associated Mouse Models
-
Autism Reports
53
Populations
64 (58 case / 6 control)
Individuals
924 (811 case / 113 control)
Summary

CNVs observed within this locus include many genes. Individuals with microdeletions at the 1q21.1 locus can have variable clinical manifestations, such as microcephaly and intellectual disability.

Reports related to 1q21.1 (53 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
3 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , et al. (2010)
4 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
5 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
6 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
7 Minor Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. Wang LS , et al. (2010)
8 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
9 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
10 Major Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
11 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
12 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
13 Minor Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. Sahoo T , et al. (2011)
14 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
15 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
16 Minor SHANK1 Deletions in Males with Autism Spectrum Disorder. Sato D , et al. (2012)
17 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
18 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
19 Minor Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Ye T , et al. (2012)
20 Minor Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Van Den Bossche MJ , et al. (2012)
21 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
22 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
23 Minor Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Handrigan GR , et al. (2013)
24 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
25 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
26 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
27 Major Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
28 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
29 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
30 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
31 Major Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
32 Major Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH. Kousoulidou L , et al. (2013)
33 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
34 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
35 Minor Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Woodbury-Smith M , et al. (2014)
36 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
37 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
38 Minor Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... Shin S , et al. (2015)
39 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
40 Major Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Fry AE , et al. (2016)
41 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
42 Minor Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Mosca SJ , et al. (2016)
43 Minor Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
44 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
45 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
46 Minor Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. Sansovi I , et al. (2017)
47 Minor Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Kalsner L , et al. (2017)
48 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
49 Minor Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019)
50 Minor Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants Tuncay IO et al. (2022)
51 Minor Diagnostic yield of patients with undiagnosed intellectual disability Leite AJDC et al. (2022)
52 Major Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder Kushima I et al. (2022)
53 Minor - Tuncay IO et al. (2023)
Show all Case Details Show all Cohort Details

1q21.1

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 43
Age Max: 43
Average: 43

Male: -
Female: 100
Unknown: -
CNV Size: 1200000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy

1q21.1

Description:

Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").

Diagnosis:

Intellectual disability, developmental delay, and/or ASD

Coe BP , et al. (2014)
Cohort Size: 29085

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 340000

Deletion: 25
Duplication: 56

Total CNV: 81
Discovery Method:

aCGH

Validation Method:

None

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features

Davis LK , et al. (2009)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1093961

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 250K Nsp, Affymetrix 250K Syt
Software: CNAG v2.0
Algorithm: HMM
Geographical Ancestry: NA

1q21.1

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1877403

Deletion: 15
Duplication: 15

Total CNV: 30
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

1q21.1

Description:

ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort

Diagnosis:

All cases diagnosed with ASD

Feliciano P et al. (2019)
Cohort Size: 465

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 332474

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Discovery case samples derived from AGRE set 4 (most recent patient recruitment)

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 631

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1325311

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

1q21.1

Description:

Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales

Diagnosis:

All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)

Fry AE , et al. (2016)
Cohort Size: 80

Age Min: 312
Age Max: 312
Average: 312

Male: -
Female: 100
Unknown: -
CNV Size: 98000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, solid phase hybridization

Validation Method:

Solid phase hybridization (Illumina)

Platform: Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
Software: Illumina BlueFuse Multi v3.1
Algorithm: PennCNV
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian

1q21.1

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

Girirajan S , et al. (2011)
Cohort Size: 336

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 3
Unknown: 47
CNV Size: 364942

Deletion: 14
Duplication: 2

Total CNV: 16
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

1q21.1

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 24
Age Max: 120
Average: 62.666666666667

Male: 3
Female: 1
Unknown: 96
CNV Size: 820000

Deletion: 100
Duplication: 81

Total CNV: 181
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -

1q21.1

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Girirajan S , et al. (2013)
Cohort Size: 2588

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1250000

Deletion: 4
Duplication: 8

Total CNV: 12
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen 135K array)

Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA

1q21.1

Description:

Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

Diagnosis:

Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

Griswold AJ , et al. (2012)
Cohort Size: 813

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 893092

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)

1q21.1

Description:

Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).

Diagnosis:

22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.

Handrigan GR , et al. (2013)
Cohort Size: 35

Age Min: 108
Age Max: 108
Average: 108

Male: -
Female: 100
Unknown: -
CNV Size: 1677205

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, solid phase hybridization

Validation Method:

None

Platform: Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)

Diagnosis:

Developmental delay

Girirajan S , et al. (2013)
Cohort Size: 31518

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1250000

Deletion: 47
Duplication: 51

Total CNV: 98
Discovery Method:

N/A

Validation Method:

None

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)

Diagnosis:

Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol

Girirajan S , et al. (2013)
Cohort Size: 243

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 864201

Deletion: 6
Duplication: 7

Total CNV: 13
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent hotspot 2x400K)

Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American

1q21.1

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1279563

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (custom NimbleGen 12 X 135)

Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -

1q21.1

Description:

Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program

Diagnosis:

All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2

Kalsner L , et al. (2017)
Cohort Size: 100

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 800000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: Platform not reported
Software: -
Algorithm: -
Geographical Ancestry: 52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity

1q21.1

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 4986056

Deletion: 80
Duplication: 42

Total CNV: 122
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis

Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 51696

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

1q21.1

Description:

Cypriot patients with ASD or autistic features

Diagnosis:

Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]

Kousoulidou L , et al. (2013)
Cohort Size: 50

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2240000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent 400K custom array-CGH
Software: Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
Algorithm: -
Geographical Ancestry: Cyprus

1q21.1

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 508662

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

1q21.1

Description:

Individuals predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

Kushima I , et al. (2018)
Cohort Size: 2458

Age Min: 396
Age Max: 888
Average: 607.63636363636

Male: 36
Female: 64
Unknown: -
CNV Size: 3514332

Deletion: 8
Duplication: 3

Total CNV: 11
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

1q21.1

Description:

Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.

Diagnosis:

Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.

Leite AJDC et al. (2022)
Cohort Size: 369

Age Min: 48
Age Max: 48
Average: 48

Male: -
Female: 100
Unknown: -
CNV Size: 404108

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: Thermofisher GeneChip CytoScanHD
Software: ThermoFisher ChAS v.3.0
Algorithm: NA
Geographical Ancestry: Brazil

1q21.1

Description:

Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.

Diagnosis:

Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.

Kushima I et al. (2022)
Cohort Size: 1818

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 397543

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qRT-PCR

Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan

1q21.1

Description:

Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.

Diagnosis:

Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

Kushima I et al. (2022)
Cohort Size: 3014

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 446403

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

qRT-PCR

Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan

1q21.1

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 25
Female: 75
Unknown: -
CNV Size: 421464

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

1q21.1

Description:

Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.

Diagnosis:

ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.

Lionel AC , et al. (2013)
Cohort Size: 5384

Age Min: 180
Age Max: 180
Average: 180

Male: 100
Female: -
Unknown: -
CNV Size: 427235

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.

Diagnosis:

ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

Morrow EM , et al. (2008)
Cohort Size: 94

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 215000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan

1q21.1

Description:

Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)

Diagnosis:

All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.

Mosca SJ , et al. (2016)
Cohort Size: 82

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 463276

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmni2.5-Quad BeadChip
Software: -
Algorithm: iPattern, PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Canada

1q21.1

Description:

Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: 8
Female: 6
Unknown: 86
CNV Size: N/A

Deletion: 45
Duplication: 94

Total CNV: 139
Discovery Method:

aCGH

Validation Method:

FISH

Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Neurodevelopmental disorders

Pfundt R , et al. (2016)
Cohort Size: 1215

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1196755

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 1470000

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European

1q21.1

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 82
Female: 18
Unknown: -
CNV Size: 344353

Deletion: 3
Duplication: 6

Total CNV: 9
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

1q21.1

Description:

ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)

Diagnosis:

Cases classified according to ADOS and ADI-R

Pinto D , et al. (2014)
Cohort Size: 1359

Age Min: 204
Age Max: 204
Average: 204

Male: 100
Female: -
Unknown: -
CNV Size: 1877404

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

1q21.1

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 182649

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

1q21.1

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 180
Age Max: 180
Average: 180

Male: 100
Female: -
Unknown: -
CNV Size: 427157

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain

1q21.1

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 641794

Deletion: 4
Duplication: 3

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -

1q21.1

Description:

Patients referred for microarray testing to Signature Genomic Laboratories for physical and/or intellectual disability and/or dysmorphic features

Diagnosis:

Developmental delay (DD)

Sahoo T , et al. (2011)
Cohort Size: 2

Age Min: 43
Age Max: 43
Average: 43

Male: 100
Female: -
Unknown: -
CNV Size: 358000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: SignatureChipOS v2.0 135K array
Software: -
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

Sajan SA , et al. (2013)
Cohort Size: 487

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 170212

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian

1q21.1

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 78
Female: 22
Unknown: -
CNV Size: 1820132

Deletion: 6
Duplication: 14

Total CNV: 20
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

1q21.1

Description:

Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine

Diagnosis:

Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features

Sansovi I , et al. (2017)
Cohort Size: 337

Age Min: 84
Age Max: 132
Average: 108

Male: 50
Female: 50
Unknown: -
CNV Size: 384000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia

1q21.1

Description:

Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).

Diagnosis:

ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)

Shen Y , et al. (2010)
Cohort Size: 848

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 400000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -

1q21.1

Description:

Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.

Sato D , et al. (2012)
Cohort Size: 1614

Age Min: 384
Age Max: 384
Average: 384

Male: 100
Female: -
Unknown: -
CNV Size: 338928

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
Software: -
Algorithm: DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
Geographical Ancestry: Canadian (n=1158) and European (n=456)

1q21.1

Description:

Patients with normal karyotype referred for further genetic testing from March 2012-April 2014

Diagnosis:

34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID

Shin S , et al. (2015)
Cohort Size: 96

Age Min: 12
Age Max: 12
Average: 12

Male: 100
Female: -
Unknown: -
CNV Size: 376000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

1q21.1

Description:

ASD patients from 173 families with at least two affected individuals from AGP

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1114000

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

Array SNP

Validation Method:

Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

Platform: Affymetrix 10K (v2)
Software: dChip
Algorithm: HMM
Geographical Ancestry: -

1q21.1

Description:

Replication cohort consisting of patients referred to the Mayo Clinic

Diagnosis:

Autism or pervasive developmental disorder (PDD)

Vaags AK , et al. (2012)
Cohort Size: 1796

Age Min: 42
Age Max: 42
Average: 42

Male: 100
Female: -
Unknown: -
CNV Size: 328199

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA

1q21.1

Description:

Patients referred for aCGH analysis from 2008-present

Diagnosis:

Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)

Tzetis M , et al. (2012)
Cohort Size: 334

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 2540000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece

1q21.1

Description:

Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 92
Female: 8
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland

1q21.1

Description:

Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.

Diagnosis:

Intellectual disability (ID). Cases with total IQ<70 met definition of ID.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 92
Female: 8
Unknown: -
CNV Size: 703000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

1q21.1

Description:

Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 169

Age Min: -
Age Max: -
Average: -

Male: 92
Female: 8
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

1q21.1

Description:

Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 1281

Age Min: -
Age Max: -
Average: -

Male: 92
Female: 8
Unknown: -
CNV Size: 703000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland

1q21.1

Description:

ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.

Diagnosis:

Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)

Tuncay IO et al. (2022)
Cohort Size: 23

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1110382

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

-

Platform: Illumina HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Middle Eastern, South Asian, and European

1q21.1

Description:

ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).

Diagnosis:

Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.

Tuncay IO et al. (2023)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 55573

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

Platform: Illumina NovaSeq 6000
Software: CNVkit, GISTIC2.0.
Algorithm: NA
Geographical Ancestry: East Africa (Ethiopia, Eritrea, Kenya)

1q21.1

Description:

ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)

Diagnosis:

ASD (according to DSM-IV criteria)

Wang LS , et al. (2010)
Cohort Size: 103

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 882000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap550 BeadChip
Software: BeadStudio
Algorithm: PennCNV
Geographical Ancestry: Croatian

1q21.1

Description:

Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH

Diagnosis:

Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193

Ye T , et al. (2012)
Cohort Size: 486

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1600000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M Duo SNP chip
Software: Illumina GenomeStudio V2010.1
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: NA

1q21.1

Description:

Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States

Diagnosis:

Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.

Woodbury-Smith M , et al. (2014)
Cohort Size: 19

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 109317

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmni2.5 BeadChip
Software: PennCNV, QuantiSNP, iPattern
Algorithm: -
Geographical Ancestry: US and Canada

1q21.1

Description:

Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014

Diagnosis:

66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).

Xu Q , et al. (2016)
Cohort Size: 115

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1600000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.

Diagnosis:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).

Yin CL , et al. (2016)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 299015

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese

1q21.1

Description:

ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th

Diagnosis:

ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5

C Yuen RK et al. (2017)
Cohort Size: 2626

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 364000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WGS

Validation Method:

aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

battaglia_13_DD/ID/ASD_discovery_cases-case31

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Mild DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 3 yrs. 7 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1200000
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF24, NBPF11, NBPF10

coe_14_ASD/DD/ID_discovery_cases-case328

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case329

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case330

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case331

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case332

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case333

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case334

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case335

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case336

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case337

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case338

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case339

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case340

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case341

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case342

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case343

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case344

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case345

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case346

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case347

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case348

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case349

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case350

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case351

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case352

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case353

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case354

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case355

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case356

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case357

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case358

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case359

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case360

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case361

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case362

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case363

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case364

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case365

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case366

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case367

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case368

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case369

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case370

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case371

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case372

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case373

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case374

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case375

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case376

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case377

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case378

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case379

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case380

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case381

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case382

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case383

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case384

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case385

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case386

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case387

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case388

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case389

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case390

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case391

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case392

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case393

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case394

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case395

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case396

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case397

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case398

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case399

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case400

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case401

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case402

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case403

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case404

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case405

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case406

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case407

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_cases-case408

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

davis_09_ASD_discovery_cases-AU038303

Clinical Profile:

Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Non-syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 144940574
CNV End: 146034535
CNV Size: 1093961
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: NBPF10, NBPF1

engchuan_15_ASD_discovery_cases-case13035_443

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147365734
CNV End: 147422858
CNV Size: 57125
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

engchuan_15_ASD_discovery_cases-case13135_1523

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145430980
CNV End: 148359881
CNV Size: 2928902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

engchuan_15_ASD_discovery_cases-case14088_1520

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145686865
CNV End: 146055345
CNV Size: 368481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

engchuan_15_ASD_discovery_cases-case14309_4260

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_cases-case14330_4440

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145645929
CNV End: 145809105
CNV Size: 163177
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_cases-case14398_5070

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145689573
CNV End: 145813526
CNV Size: 123954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_cases-case16035_1571013001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

engchuan_15_ASD_discovery_cases-case1962_301

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146788907
CNV End: 147292384
CNV Size: 503477
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case20000_1010002

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15

engchuan_15_ASD_discovery_cases-case20003_1019001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146317915
CNV End: 146828254
CNV Size: 510339
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case20013_1075001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15

engchuan_15_ASD_discovery_cases-case20022_1110001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15

engchuan_15_ASD_discovery_cases-case20028_1134001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15

engchuan_15_ASD_discovery_cases-case20110_1510001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145686865
CNV End: 145823638
CNV Size: 136774
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_cases-case20161_1339001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146336720
CNV End: 146608260
CNV Size: 271540
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case2198_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15

engchuan_15_ASD_discovery_cases-case4020_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145686865
CNV End: 145809105
CNV Size: 122241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_cases-case4159_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145679086
CNV End: 145813526
CNV Size: 134441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_cases-case4291_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144967972
CNV End: 146317915
CNV Size: 1349943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case4403_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_cases-case5007_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146046863
CNV Size: 444918
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

engchuan_15_ASD_discovery_cases-case5114_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144434477
CNV End: 144659645
CNV Size: 225168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5262_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148263475
CNV End: 148397943
CNV Size: 134469
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, LINC01731, LINC01138

engchuan_15_ASD_discovery_cases-case5262_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145672100
CNV End: 146114776
CNV Size: 442677
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, ANKRD35, RNF115

engchuan_15_ASD_discovery_cases-case5283_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145663483
CNV End: 145809105
CNV Size: 145623
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_cases-case6150_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145701844
CNV End: 146046863
CNV Size: 345020
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

engchuan_15_ASD_discovery_cases-case6362_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145624561
CNV End: 145813526
CNV Size: 188966
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_cases-case8413_201

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146386464
CNV End: 146608260
CNV Size: 221796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case8587_210

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146387597
CNV End: 146608260
CNV Size: 220663
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case8635_201

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145430980
CNV End: 148439136
CNV Size: 3008157
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

feliciano_19_ASD_discovery_cases-caseSP0017106

Clinical Profile:

Family history: both parents are negative for ASD and have no reported mental health diagnoses.

Cognitive Profile:

-

Feliciano P et al. (2019)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145687811
CNV End: 146020232
CNV Size: 332422
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

feliciano_19_ASD_discovery_cases-caseSP0046081

Clinical Profile:

-

Cognitive Profile:

-

Feliciano P et al. (2019)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145687811
CNV End: 146020231
CNV Size: 332421
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

gai_11_ASD_discovery_cases-AU1163303

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11

gai_11_ASD_discovery_cases-AU1163304

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11

gai_11_ASD_discovery_cases-AU1610306

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144967972
CNV End: 146293282
CNV Size: 1325311
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11

gai_11_ASD_discovery_cases-AU1688302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11

fry_16_DD/ID/EP/ASD_discovery_cases-caseR58

Clinical Profile:

Clinical features: severe intellectual disability, scoliosis. Age of seizure onset: <8 years. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: atonic seizures, absence seizures, myoclonic seizures

Cognitive Profile:

Severe intellectual disability

Fry AE , et al. (2016)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 26 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145711421
CNV End: 145809105
CNV Size: 97685
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CD160, RNF115

girirajan_11_ASD_discovery_cases-Si128

Clinical Profile:

ADOS score: 7. Vineland composite score: 69.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 83; Non-verbal IQ, 98.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143815333
CNV End: 143965028
CNV Size: 149695
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si162

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145603130
CNV End: 145809109
CNV Size: 205980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

girirajan_11_ASD_discovery_cases-Si173

Clinical Profile:

ADOS score: 7. Vineland composite score: 75.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si177

Clinical Profile:

ADOS score: 8. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143965028
CNV Size: 144113
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si192

Clinical Profile:

ADOS score: 6. Vineland composite score: 85.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147365658
CNV End: 147419395
CNV Size: 53738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

girirajan_11_ASD_discovery_cases-Si217

Clinical Profile:

ADOS score: 7. Vineland composite score: 86.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_11_ASD_discovery_cases-Si23

Clinical Profile:

ADOS score: 5. Vineland composite score: 96.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_11_ASD_discovery_cases-Si24

Clinical Profile:

ADOS score: 10. Vineland composite score: 87.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si3

Clinical Profile:

ADOS score: 10. Vineland composite score: 110.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si313

Clinical Profile:

ADOS score: 8. Vineland composite score: 75.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_11_ASD_discovery_cases-Si321

Clinical Profile:

ADOS score: 10. Vineland composite score: 67.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 148804487
CNV End: 148895213
CNV Size: 90727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_cases-Si48

Clinical Profile:

ADOS score: 10. Vineland composite score: 57.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_11_ASD_discovery_cases-Si66

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_11_ASD_discovery_cases-Si79

Clinical Profile:

ADOS score: 8. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 83.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_11_ASD_discovery_cases-Si85

Clinical Profile:

ADOS score: 9. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 81; Non-verbal IQ, 101.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147365658
CNV End: 147419395
CNV Size: 53738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

girirajan_11_ASD_discovery_cases-Si95

Clinical Profile:

ADOS score: 5. Vineland composite score: 73.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143820915
CNV End: 143965028
CNV Size: 144113
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_12_ASD/DD/ID_discovery_cases-case0078

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0079

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0080

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0081

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0082

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0083

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0084

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0085

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0086

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0087

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0088

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0089

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0090

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0091

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0092

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0093

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0094

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0095

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0096

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0097

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0098

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0099

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0100

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0101

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0102

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0103

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0104

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0105

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0106

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0107

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0108

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0109

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0110

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0111

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0112

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0113

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0114

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0115

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0116

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0117

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0118

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0119

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0120

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0121

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0122

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0123

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0124

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0125

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0126

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0127

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0128

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0129

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0130

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0131

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0132

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0133

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0134

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0135

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0136

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0137

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0138

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0139

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0140

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0141

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0142

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0143

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0144

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0145

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0146

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0147

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0148

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0149

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0150

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0151

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0152

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0153

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0154

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0155

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0156

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0157

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0158

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0159

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0160

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0161

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0162

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0163

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0164

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0165

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0166

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0167

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0168

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0169

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0170

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0171

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0172

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0173

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0174

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0175

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0176

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0177

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0178

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0179

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0180

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0181

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0182

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0183

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0184

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0185

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0186

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0187

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0188

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0189

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0190

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0191

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0192

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0193

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0194

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0195

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0196

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0197

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0198

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0199

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0200

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0201

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0202

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0203

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0204

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0205

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0206

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0207

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0208

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0209

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0210

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0211

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0212

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0213

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0214

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0215

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0216

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0217

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0218

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0219

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0220

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0221

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0222

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0223

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0224

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0225

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0226

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0227

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0228

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0229

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0230

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0231

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0232

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0233

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0234

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0235

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0236

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0237

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0238

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0239

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0240

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0241

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0242

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0243

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0244

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0245

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case0246

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case20880

Clinical Profile:

Failure to thrive

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case24219

Clinical Profile:

Severe speech delays. Hypotonia. Febrile seizure. Unilateral hearing loss. High pain tolerance. Dysmorphic features: bilateral ptosis. Congenital anomalies: Duane syndrome, patent ductus arteriosus. Other features: hemihypertrophy, chronic low-grade fevers. Growth parameters: weight >99th %ile, height 61st %ile, OFC 50th %ile. Family history: father has ADHD, congenital cataracts, chronic fevers, and speech delay.

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 2 yrs. 8 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case25163

Clinical Profile:

Mild developmental delays, hypotonia, nondysmorphic, normal height, weight, and OFC; mother with psychiatric issues and learning disability. Individual previously reported in Rosenfeld et al., 2012.

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 2 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case27875

Clinical Profile:

Mild motor and speech delays, normal tone, unilateral hearing loss. Dysmorphic features: ptosis, small ears. Congenital anomalies: hydronephrosis, undescended testicle, inguinal hernia. Other features: strabismus. Growth parameters: weight 90th-97th %ile, height 97th %ile, OFC -1 SD. Family history: father had congenital heart defect. Karyotype: 47, XYY.

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case35416

Clinical Profile:

Motor and speech delays, hypotonia. Dysmorphic features: prominent ear inner helix, prominent knees. Congenital anomalies: ventricular septal defect (VSD). Growth parameters: weight 3rd %ile, height 50th %ile, OFC -3.2 SD. Family history: father has similar ears.

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 4 yrs. 8 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case36479

Clinical Profile:

Motor delay, poor speech, aggression. Normal tone. Dysmorphic features: midface hypoplasia, epicanthal folds, allergic shiners, Down syndrome-like features. Congenital anomalies: hypoplastic patellae, posterior iliac horns. Other features: strabismus. Growth parameters: weight <3rd %ile, height 5th %ile, normal OFC. Family history: mother has nail patella syndrome and intellectual disability (ID). Patient previously reported in Rosenfeld et al., 2012.

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case46609

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case49557

Clinical Profile:

Feeding difficulty

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case60918

Clinical Profile:

Central nervous system disorder

Cognitive Profile:

Mental retardation

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case67345

Clinical Profile:

Mixed developmental disorder, microcephalus, failure to thrive. Speech delay, ADHD, some sensory issues. Normal tone. Dysmorphic features: bitemporal narrowing, thin nose, epicanthal folds, rotated ears, absent antitragus, small philtrum, high palate. Other features: hypothyroidism, rectal prolapsed. Growth parameters: weight 10th %ile, height 25th-50th %ile, OFC -2.7 SD. Family history: mother has mitral valve prolapse.

Cognitive Profile:

IQ 90

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case69470

Clinical Profile:

Delayed developmental milestones

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_cases-case73180

Clinical Profile:

Dysmorphic features

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_13a_ASD_discovery_cases-11712.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147364446
CNV End: 147415879
CNV Size: 51434
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-12265.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-12345.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147364446
CNV End: 147415879
CNV Size: 51434
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-12420.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-12719.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147244119
CNV End: 147504070
CNV Size: 259952
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OR13Z1P, OR13Z2P, OR13Z3P, CHD1L, LINC00624

girirajan_13a_ASD_discovery_cases-12891.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-12907.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-13507.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-13975.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-14181.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_ASD_discovery_cases-14473.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_cases-AU3144302

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_DD_discovery_cases-DDcase1

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase10

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase11

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase12

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase13

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase14

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase15

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase16

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase17

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase18

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase19

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase2

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase20

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase21

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase22

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase23

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase24

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase25

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase26

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase27

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase28

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase29

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase3

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase30

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase31

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase32

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase33

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase34

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase35

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase36

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase37

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase38

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase39

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase4

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase40

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase41

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase42

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase43

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase44

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase45

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase46

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase47

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase48

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase49

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase5

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase50

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase51

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase52

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase53

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase54

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase55

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase56

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase57

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase58

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase59

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase6

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase60

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase61

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase62

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase63

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase64

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase65

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase66

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase67

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase68

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase69

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase7

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase70

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase71

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase72

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase73

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase74

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase75

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase76

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase77

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase78

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase79

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase8

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase80

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase81

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase82

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase83

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase84

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase85

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase86

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase87

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase88

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase89

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase9

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase90

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase91

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase92

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase93

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase94

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase95

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase96

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase97

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13a_DD_discovery_cases-DDcase98

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24, NBPF10

girirajan_13b_ASD_discovery_cases-10609111027

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145603130
CNV End: 145804587
CNV Size: 201458
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

girirajan_13b_ASD_discovery_cases-15008109638

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 148804487
CNV End: 148894914
CNV Size: 90428
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_13b_ASD_discovery_cases-21908109957

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143829534
CNV End: 143970710
CNV Size: 141176
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

girirajan_13b_ASD_discovery_cases-25807108397

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_cases-30708110281

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_cases-40906106831

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_cases-47609111962

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_cases-55104100200

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 148804487
CNV End: 148885575
CNV Size: 81089
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

griswold_12_ASD_discovery_cases-case17331

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 147032152
CNV End: 147924683
CNV Size: 892532
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

griswold_12_ASD_discovery_cases-case7804

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 147032152
CNV End: 147924683
CNV Size: 892532
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_13b_ASD_discovery_cases-60704102209

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_cases-607107598

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145604295
CNV End: 146057829
CNV Size: 453535
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

girirajan_13b_ASD_discovery_cases-607107598

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143665017
CNV End: 144529218
CNV Size: 864201
Validation Description: aCGH (Agilent hotspot 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A

girirajan_13b_ASD_discovery_cases-9005102681

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145603130
CNV End: 145809109
CNV Size: 205980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

girirajan_13b_ASD_discovery_cases-9805103469

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 148814429
CNV End: 148959446
CNV Size: 145018
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP88, RNU2-38P, PDE4DIP

handrigan_13_ASD/DD/ID_discovery_cases-patient8

Clinical Profile:

Neurodevelopmental abnormalities: PDD (pervasive developmental delay), speech delay, social awkardness. Urological abnormalities: none reported. Other features: macrocephaly, small ears, high-arched palate, hypertelorism, maxillary hypoplasia. Growth parameters: overgrowth for both weight and height.

Cognitive Profile:

-

Handrigan GR , et al. (2013)
Primary Diagnosis: ASD

Age: 9 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

itsara_10_ASD_discovery_cases-HI3079

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145013719
CNV End: 146293282
CNV Size: 1279563
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: NCBI36
Gene Content: PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, NBPF11, NBPF24

itsara_10_ASD_discovery_cases-HI3745

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145689573
CNV End: 145809105
CNV Size: 119533
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147307637
CNV End: 147966044
CNV Size: 658407
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4C, PPIAL4A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000245

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144854546
CNV End: 147966044
CNV Size: 3111498
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11, PPIAL4A, NBPF14, PPIAL4E, PPIAL4F, PPIAL4D, NBPF15, NBPF16, PPIAL4C

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147134175
CNV End: 147966044
CNV Size: 831869
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4C, PPIAL4A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000458

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147307637
CNV End: 147966044
CNV Size: 658407
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4C, PPIAL4A

kalsner_17_ASD_discovery_cases-case2

Clinical Profile:

Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2. Note: CNV coordinates and CNV gene content are more consistent with an 800 kb duplication in the 1q21.1 locus, rather than a 1.8 Mb duplication in the 1q21.1-q21.2 locus.

Cognitive Profile:

-

Kalsner L , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 146016536
CNV End: 146883784
CNV Size: 800000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: NBPF20, NBPF19, NBPF10, NBPF11, NBPF12, PRKAB2, CHD1L, FMO5

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000753

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147756734
CNV End: 147776466
CNV Size: 19733
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000775

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147307637
CNV End: 147966044
CNV Size: 658407
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4C, PPIAL4A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000868

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 146987841
CNV End: 148191100
CNV Size: 1203260
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, FMO5, LINC00624, BCL9, GPR89B, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000955

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146009630
CNV Size: 374186
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000989

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147756734
CNV End: 147776466
CNV Size: 19733
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001091

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001227

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001276

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001287

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146009630
CNV Size: 374186
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001612

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 145804778
CNV Size: 202833
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001616

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146944906
CNV Size: 1342961
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, GPR89A, ANKRD35, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001617

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 148492647
CNV Size: 3276951
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001640

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001647

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145696791
CNV End: 146133507
CNV Size: 436717
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001889

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145625047
CNV End: 146021303
CNV Size: 396257
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002017

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002019

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002072

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148444397
CNV Size: 3013418
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002098

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 145807381
CNV Size: 205436
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002168

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148246178
CNV Size: 2815199
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002206

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002245

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002254

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145688094
CNV End: 145788062
CNV Size: 99969
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002257

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145688094
CNV End: 146046645
CNV Size: 358552
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002270

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145688094
CNV End: 146046645
CNV Size: 358552
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002273

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 146987841
CNV End: 148191100
CNV Size: 1203260
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, FMO5, LINC00624, BCL9, GPR89B, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002450

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002455

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146146477
CNV Size: 544532
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002456

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 142438268
CNV End: 147018892
CNV Size: 4580624
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4G, PPIAL4C, PPIAL4B, PPIAL4A, NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF14, PPIAL4E, PPIAL4F, PPIAL4D, NBPF15, NBPF16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002460

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002501

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146046645
CNV Size: 444700
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002520

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145609216
CNV End: 146046645
CNV Size: 437430
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002625

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144967596
CNV End: 146178437
CNV Size: 1210841
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002696

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146046645
CNV Size: 411201
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002715

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144967596
CNV End: 146281439
CNV Size: 1313843
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002734

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 149343657
CNV Size: 3912678
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, RNU1-59P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145037928
CNV End: 146212234
CNV Size: 1174306
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146046645
CNV Size: 411201
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002786

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 145968427
CNV Size: 332983
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003780

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003819

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146009630
CNV Size: 374186
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003826

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003843

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003851

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146127929
CNV Size: 525984
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003858

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003896

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 142513049
CNV End: 147499105
CNV Size: 4986056
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4G, PPIAL4C, PPIAL4B, PPIAL4A, NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF14, PPIAL4E, PPIAL4F, PPIAL4D, NBPF15, NBPF16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003902

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003940

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1170268
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003944

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148444397
CNV Size: 3013418
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004010

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148287692
CNV Size: 2856713
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004052

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004059

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144993975
CNV End: 146267496
CNV Size: 1273521
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004071

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004074

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004104

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004141

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145694408
CNV End: 145802744
CNV Size: 108337
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004160

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146944906
CNV Size: 1342961
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, GPR89A, ANKRD35, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004231

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004240

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1170268
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145705541
CNV End: 146009831
CNV Size: 304291
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004271

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004274

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004280

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145037928
CNV End: 146375718
CNV Size: 1337790
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004281

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 142438161
CNV End: 144837799
CNV Size: 2399638
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PPIAL4G, PPIAL4C, PPIAL4B, PPIAL4A, NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004367

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145833599
CNV End: 146009630
CNV Size: 176032
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004368

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143456705
CNV End: 145325112
CNV Size: 1868407
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004384

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004400

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004431

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 148572921
CNV Size: 3357225
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004432

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004464

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004493

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146009630
CNV Size: 407685
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004503

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004518

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146009630
CNV Size: 407685
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004557

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1170268
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004575

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004611

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004624

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004677

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004685

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004694

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004723

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436925
CNV Size: 3005946
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004761

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143509840
CNV End: 149078153
CNV Size: 5568314
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, RNA5SP59, PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, SRGAP2D, NBPF15, SRGAP2B, FAM72D, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004765

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004770

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146009630
CNV Size: 374186
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004780

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 145807381
CNV Size: 205436
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004799

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004812

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148492647
CNV Size: 3061668
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004851

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145694408
CNV End: 145802744
CNV Size: 108337
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004862

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004889

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004908

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146009630
CNV Size: 374186
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004917

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004945

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005010

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145694408
CNV End: 145802744
CNV Size: 108337
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005027

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1170268
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005066

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005074

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144625595
CNV End: 149078153
CNV Size: 4452559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP59, PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01632, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, SRGAP2B, FAM72D, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005100

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1170268
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005117

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005133

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005178

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148437125
CNV Size: 3006146
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005190

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148436984
CNV Size: 3006005
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005307

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144625595
CNV End: 149078153
CNV Size: 4452559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP59, PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01632, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, SRGAP2B, FAM72D, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005312

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148328747
CNV Size: 2897768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005408

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144974142
CNV End: 146375718
CNV Size: 1401576
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00011133

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145833599
CNV End: 146009630
CNV Size: 176032
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00012448

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 145968427
CNV Size: 332983
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

krumm_13_ASD_discovery_cases-case12719.p1

Clinical Profile:

ASD proband from SSC quad family 12719. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 46.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147243844
CNV End: 147295509
CNV Size: 51666
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CHD1L, LINC00624

kousoulidou_13_ASD_discovery_cases-patient8

Clinical Profile:

High-functioning ASD. Normal speech, socially isolated from peers, exhibits stereotyped hand movements, reduced facial expressivity, emotional withdrawal, echolalia, psychomotor hyperactivity, and narrow interests. Family history: mother suffers from depression after being disabled due to an accident.

Cognitive Profile:

-

Kousoulidou L , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145215697
CNV End: 149078153
CNV Size: 3862457
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAL4D, RNVU1-14, NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, LINC01145, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, NBPF20, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

krumm_15_ASD_discovery_cases-case14181.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601946
CNV End: 146020232
CNV Size: 418287
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kushima_18_SCZ_discovery_cases-caseSCZ0194

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 29 years of age (core symptoms include delusions, hallucinations). Brain imaging: mild frontal atrophy on brain CT. Physical comorbidities: uterine fibroids. Family history: negative.

Cognitive Profile:

Mild intellectual disability

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia, ID

Age: 50 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145430995
CNV End: 148427734
CNV Size: 2996740
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kushima_18_SCZ_discovery_cases-caseSCZ0242

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 37 years of age (core symptoms include delusions, hallucinations, self-injury, cognitive decline). Brain imaging: frontotemporal atrophy and ischemic white matter change on brain CT. Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 66 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601945
CNV End: 146048346
CNV Size: 446402
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kushima_18_SCZ_discovery_cases-caseSCZ0288

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include persecutory delusions, disorganized thoughts, disinhibited behavior, avolition, blunted affect). Physical comorbidities: pneumonia, gastrointestinal bleeding. Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 74 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145430995
CNV End: 148427734
CNV Size: 2996740
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kushima_18_SCZ_discovery_cases-caseSCZ0503

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 41 years of age (core symptoms include auditory hallucinations, persecutory and referential delusions), mood symptoms. Physical comorbidities: scapulohumeral periarthritis, knee osteoarthritis, cubital tunnel syndrome. Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 49 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145430995
CNV End: 148427734
CNV Size: 2996740
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kushima_18_SCZ_discovery_cases-caseSCZ0690

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, persecutory delusions, impulsivity, agitated and violent behavior, negative symptoms), unusual behaviors. Brain imaging: periventricular high intensity area on T2-weighted images on brain MRI. Physical comorbidities: asthma, emphysema. Congenital and developmental phenotypes: low birth weight. Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 36 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601945
CNV End: 146041785
CNV Size: 439841
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kushima_18_SCZ_discovery_cases-caseSCZ0952

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include delusions, hallucinations, agitation). Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 47 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145430995
CNV End: 148427734
CNV Size: 2996740
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

kushima_18_SCZ_discovery_cases-caseSCZ1194

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include hallucinations, delusions, thought disorders, manic symptoms, negative symptoms, cognitive decline), mood symptoms. Brain imaging: mild diffuse atrophy and bilateral basal ganglia calcification on brain CT. Congenital and developmental phenotypes: probable ID, arrested on a charge of larceny. Family history: negative.

Cognitive Profile:

Probable intellectual disability (IQ < 70)

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 67 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601945
CNV End: 146048346
CNV Size: 446402
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kushima_18_SCZ_discovery_cases-caseSCZ1792

Clinical Profile:

No additional clinical information reported for this individual. Family history: unknown.

Cognitive Profile:

-

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 54 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145580669
CNV End: 149095000
CNV Size: 3514332
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, RNU2-38P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, NBPF9, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kushima_18_SCZ_discovery_cases-caseSCZ2104

Clinical Profile:

No additional clinical information reported for this individual. Family history: unknown.

Cognitive Profile:

-

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 39 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430995
CNV End: 148257619
CNV Size: 2826625
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, RNF115, HYDIN2

kushima_18_SCZ_discovery_cases-caseSCZ2447

Clinical Profile:

No additional clinical information reported for this individual. Family history: unknown.

Cognitive Profile:

-

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 33 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601945
CNV End: 146049618
CNV Size: 447674
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kushima_18_SCZ_discovery_cases-caseSCZ2563

Clinical Profile:

No additional clinical information reported for this individual. Family history: unknown.

Cognitive Profile:

-

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 42 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601945
CNV End: 148889374
CNV Size: 3287430
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, RNU6-1171P, NUDT4B, RN7SKP88, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, SEC22B3, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14, RNF115, HYDIN2, PDE4DIP

kushima_22_BPD_discovery_cases-caseBD0653

Clinical Profile:

Diagnosis of bipolar disorder according to DSM-5 criteria.

Cognitive Profile:

-

Kushima I et al. (2022)
Primary Diagnosis: Bipolar disorder

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145652077
CNV End: 146049619
CNV Size: 397543
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNF115, POLR3GL, GNRHR2, LIX1L, ANKRD35, HJV, NUDT17, ANKRD34A, GPR89A, PDZK1, MIR6736, LIX1L-AS1, PEX11B, ITGA10, RBM8A, POLR3C, PIAS3, CD160, TXNIP

kushima_22_SCZ_discovery_cases-caseSCZ0242

Clinical Profile:

Diagnosis of schizophrenia according to DSM-5 criteria.

Cognitive Profile:

-

Kushima I et al. (2022)
Primary Diagnosis: Schizophrenia

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601945
CNV End: 146048347
CNV Size: 446403
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNF115, POLR3GL, GNRHR2, LIX1L, ANKRD35, HJV, NUDT17, ANKRD34A, GPR89A, PDZK1, NBPF25P, MIR6736, LIX1L-AS1, PEX11B, ITGA10, RBM8A, POLR3C, PIAS3, CD160, TXNIP

kushima_22_SCZ_discovery_cases-caseSCZ1194

Clinical Profile:

Diagnosis of schizophrenia according to DSM-5 criteria.

Cognitive Profile:

-

Kushima I et al. (2022)
Primary Diagnosis: Schizophrenia

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601945
CNV End: 146048347
CNV Size: 446403
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNF115, POLR3GL, GNRHR2, LIX1L, ANKRD35, HJV, NUDT17, ANKRD34A, GPR89A, PDZK1, NBPF25P, MIR6736, LIX1L-AS1, PEX11B, ITGA10, RBM8A, POLR3C, PIAS3, CD160, TXNIP

levy_11_ASD_discovery_cases-11207.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143542853
CNV End: 143964413
CNV Size: 421561
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, NBPF17P, HIST2H2BB, FAM72C

leite_22_DD/ID_discovery_cases-case029

Clinical Profile:

Global developmental delay

Cognitive Profile:

-

Leite AJDC et al. (2022)
Primary Diagnosis: Developmental delay

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145648774
CNV End: 146052881
CNV Size: 404108
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNF115, POLR3GL, GNRHR2, LIX1L, ANKRD35, HJV, NUDT17, ANKRD34A, GPR89A, PDZK1, LINC01719, RNVU1-6, MIR6736, LIX1L-AS1, PEX11B, ITGA10, RBM8A, POLR3C, PIAS3, CD160, TXNIP

lionel_13_ASD/SCZ/EP_discovery_cases-proband3

Clinical Profile:

Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.

Cognitive Profile:

Intellectual disability

Lionel AC , et al. (2013)
Primary Diagnosis: ASD and ID

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 144337594
CNV End: 144764828
CNV Size: 427235
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11

morrow_08_ASD_discovery_cases-case6301

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 145820000
CNV End: 146035000
CNV Size: 215000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

mosca_16_DCD_discovery_cases-case114303

Clinical Profile:

Ancestry: European. Family history: maternal diagnosis DCD; paternal diagnosis reading disorder; sibling diagnosis DCD (sibling DNA not available).

Cognitive Profile:

-

Mosca SJ , et al. (2016)
Primary Diagnosis: DCD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 145625979
CNV End: 146089254
CNV Size: 463276
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh37
Gene Content: NBPF20, NBPF10, RNF115, CD160, PDZK1, GPR89A, NBPF11

nguyen_13_DD/ID/MCA/ASD_discovery_cases-2375

Clinical Profile:

Database: DECIPHER. Indication for study: Club foot, varus, down-turned corners of the mouth, epicanthic folds, microcephaly, reduction deformity of arms and legs (no digits), thin upper lip.

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145078202
CNV End: 146482713
CNV Size: 1404511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF11, NBPF24

nguyen_13_DD/ID/MCA/ASD_discovery_cases-248905

Clinical Profile:

Database: DECIPHER. Indication for study: Abdomen, clinodactyly, ear helix, flat face, high frontal hairline, hypertelorism, hypohidrotic, loose skin in neck, palpehral fissures slant down, tapering fingers

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: U
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145741704
CNV End: 145955868
CNV Size: 214165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-249001

Clinical Profile:

Database: DECIPHER. Indication for study: Agenesis/hypoplasia of corpus callosum, asymmetric face, brachycephaly, broad halux, craniosynostosis, cupid bow shape of mouth, dysplastic ears, flat occiput, hypospadias, joint contractures, mandible, intellectual disability/developmental delay, microcephaly, microstomia, palperbral fissures slant down, plagiocephaly/asymmetrical skull, prominent ear helix, ptosis of eyelids, short neck and toes.

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145741704
CNV End: 145955868
CNV Size: 214165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-249131

Clinical Profile:

Database: DECIPHER. Indication for study: Split/cleft hand/ectrodactyly

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145601946
CNV End: 146052638
CNV Size: 450693
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-249154

Clinical Profile:

Database: DECIPHER. Indication for study: Austism, cryptorchid testes, intellectual disability, speech delay, tricuspid stenosis

Cognitive Profile:

Intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145635445
CNV End: 146046645
CNV Size: 411201
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-250731

Clinical Profile:

Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay, oedema, prominent forefead, small ears, truncal obesity, uplift of ear lobule, wide nasal bridge

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145741704
CNV End: 145955868
CNV Size: 214165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-252458

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145687796
CNV End: 146021625
CNV Size: 333830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-254020

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145687796
CNV End: 146021625
CNV Size: 333830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-255784

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145687796
CNV End: 146021625
CNV Size: 333830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-255915

Clinical Profile:

Database: DECIPHER. Indication for study: Hyperactivity, intellectual disability/developmental delay, ptosis of eyelids

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145602039
CNV End: 145988708
CNV Size: 386670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, GPR89A, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-256532

Clinical Profile:

Database: DECIPHER. Indication for study: Cleft palate, cleft upper lip (non-midline), intellectual disability/developmental delay

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145705734
CNV End: 146019857
CNV Size: 314124
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-256998

Clinical Profile:

Database: DECIPHER. Indication for study: intellectual disability/developmental delay, neuroradiology, tonic/clonic (grand-mal)

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability and epilepsy

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144643813
CNV End: 146826111
CNV Size: 2182298
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF11, NBPF24, PRKAB2, FMO5, CHD1L

nguyen_13_DD/ID/MCA/ASD_discovery_cases-257093

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145687796
CNV End: 146021625
CNV Size: 333830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-258316

Clinical Profile:

Database: DECIPHER. Indication for study: Autism, intellectual disability/developmental delay, speech delay

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Autism and DD/ID

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145602010
CNV End: 146046645
CNV Size: 444636
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-258860

Clinical Profile:

Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145125198
CNV End: 145747414
CNV Size: 622216
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-260137

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145825941
CNV End: 146021625
CNV Size: 195685
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35

nguyen_13_DD/ID/MCA/ASD_discovery_cases-260556

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144927778
CNV End: 145747269
CNV Size: 819491
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-260565

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145687796
CNV End: 146021625
CNV Size: 333830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_cases-260577

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145878398
CNV End: 146146464
CNV Size: 268067
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC35373

Clinical Profile:

Database: Signature. Indication for study: Possible TAR Syndrome

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Possible TAR syndrome

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144124744
CNV End: 144398381
CNV Size: 273637
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PPIAL4B, PPIAL4C, PPIAL4A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC46609

Clinical Profile:

Database: Signature. Indication for study: Abnormal ultrasound, Abnormal karyotype, Cystic hygroma, Multiple fetal anomalies, mosaic der(13)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144111146
CNV End: 145854345
CNV Size: 1743199
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PPIAL4B, PPIAL4C, PPIAL4A, NBPF9, PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient10

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient100

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient101

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient102

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient103

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient104

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient105

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient106

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient107

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient108

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient109

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient11

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient110

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient111

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient112

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient113

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient114

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient115

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient116

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient117

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient118

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient119

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient12

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient120

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient121

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient122

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient13

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient14

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient15

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient16

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient17

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient18

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient19

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient20

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient21

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient22

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient23

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient24

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient25

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient26

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient27

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient28

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient29

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient30

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient31

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient32

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient33

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient34

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient35

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient36

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient37

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient38

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient39

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient40

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient41

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient42

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient43

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient44

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient45

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient46

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient47

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient48

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient49

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient5

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient50

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient51

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient52

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient53

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient54

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient55

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient56

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient57

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient58

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient59

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient6

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient60

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient61

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient62

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient63

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient64

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient65

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient66

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient67

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient68

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient69

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient7

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient70

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient71

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient72

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient73

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient74

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient75

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient76

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient77

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient78

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient79

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient8

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient80

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient81

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient82

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient83

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient84

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient85

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient86

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient87

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient88

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient89

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient9

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient90

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient91

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient92

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient93

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient94

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient95

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient96

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient97

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient98

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient99

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

pinto_10_ASD_discovery_cases-case13135_1523

Clinical Profile:

Normal physical exam, no epilepsy; 1q21.1 microduplication syndrome

Cognitive Profile:

Low average IQ

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex (sib with Aspergers)
CNV Start: 145430980
CNV End: 148359881
CNV Size: 2928902
Validation Description: qPCR-Maternal
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex (sib with Aspergers)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

pinto_10_ASD_discovery_cases-case5007_3

Clinical Profile:

Anxiety, language delay, no epilepsy, no dysmorphic features

Cognitive Profile:

Below average IQ

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145601946
CNV End: 146046863
CNV Size: 444918
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

pinto_10_ASD_discovery_cases-case5262_4

Clinical Profile:

Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome

Cognitive Profile:

Below average nonverbal IQ (4%ile)

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 148263475
CNV End: 148397943
CNV Size: 134469
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, LINC01731, LINC01138

pfundt_16_NDD_discovery_cases-case116

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: 1q21.1 susceptibility locus

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145299729
CNV End: 146496484
CNV Size: 1196755
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh37
Gene Content: -

pfundt_16_NDD_discovery_cases-case42

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: PEX11B deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145112372
CNV End: 145816741
CNV Size: 704369
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh37
Gene Content: -

pinto_10_ASD_discovery_cases-case5262_4

Clinical Profile:

Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome

Cognitive Profile:

Below average nonverbal IQ (4%ile)

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145672100
CNV End: 146114776
CNV Size: 442677
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, ANKRD35, RNF115

poultney_13_ASD_discovery_cases-case00HI1404A

Clinical Profile:

ASD case from AGRE (AGRE ID AU070705; NDAR ID NDAR_INVZD470AGN)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145608132
CNV End: 145788968
CNV Size: 180837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

poultney_13_ASD_discovery_cases-case01HI2158A

Clinical Profile:

ASD case from AGRE (AGRE ID AU079304; NDAR ID NDAR_INVYP365XV9)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 148929195
CNV End: 149027629
CNV Size: 98435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

pinto_14_ASD_discovery_cases2-case16035_1571013001

Clinical Profile:

Autism (ADI-R ASD, ADOS autism), language delay (first words 48 mo, first phrases 66 mo), echolalic, functionally non-verbal, normal vision and hearing, no dysmorphic features reported, no seizures. Family history: both parents unaffected, brother with Asperger syndrome (not tested).

Cognitive Profile:

Mild ID (Leiter at 14 y 11 mo: PIQ 68)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

pinto_14_ASD_discovery_cases2-case4291_1

Clinical Profile:

Autism (based on ADI-R), nonverbal after language regression at 33 mo, aggression; nuchal cord x3 and slow labor with fetal distress; multiple caf-au-lait spots <5 cm, raised moles on scalp. Family history: affected sibling (CNV not present); mother with multiple caf-au-lait spots; father with Hashimoto's thyroiditis.

Cognitive Profile:

Cognitive profile: N/A.

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 144967972
CNV End: 146317915
CNV Size: 1349944
Validation Description: qPCR (Griswold et al. 2011, PMID: 21360829)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: NCBI36
Gene Content: ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, GPR89C, LOC728989, NBPF11, NBPF24, PDIA3P, PDZK1P1, PRKAB2

pinto_14_ASD_discovery_cases2-case8635_201

Clinical Profile:

Autism on ADI-R and ADOS, comorbid OCD and ADHD; chronic ear infections; physical exam at 17 y, overweight (+4.7 SD, BMI 33.7), normal height, head circumference 1.5 SD, no epilepsy. Family history: father with seizures in infancy, mother healthy; 1 sister with epilepsy and unilateral deafness and 1 healthy sister (both not tested); maternal cousin with autism.

Cognitive Profile:

VIQ 93, PIQ 75, FSIQ 83

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: 17 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145430980
CNV End: 148439136
CNV Size: 3008157
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

poultney_13_ASD_discovery_cases-case03HI2530A

Clinical Profile:

ASD case from AGRE (AGRE ID AU0917302; NDAR ID NDAR_INVGV844EAQ)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145608132
CNV End: 145788968
CNV Size: 180837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

poultney_13_ASD_discovery_cases-case05HI4548A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1549303; NDAR ID NDAR_INVVJ971KMF)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145738484
CNV End: 145907467
CNV Size: 168984
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, CD160, POLR3C, PIAS3, ITGA10, ANKRD35, RNF115

poultney_13_ASD_discovery_cases-case05HI4548A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1549303; NDAR ID NDAR_INVVJ971KMF)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145112373
CNV End: 145456725
CNV Size: 344353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh37
Gene Content: LOC100288142, NBPF9, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL

poultney_13_ASD_discovery_cases-case98HI0089B

Clinical Profile:

ASD case from AGRE (AGRE ID AU018304; NDAR ID NDAR_INVPR057PE3)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 144855738
CNV End: 145115889
CNV Size: 260152
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh37
Gene Content: LOC100288142, NBPF9, PDE4DIP, SEC22B

poultney_13_ASD_discovery_cases-case99HI0765

Clinical Profile:

ASD case from AGRE (AGRE ID AU054805; NDAR ID NDAR_INVHV388WC3)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145608132
CNV End: 145788968
CNV Size: 180837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

poultney_13_ASD_discovery_cases-case99HI0802A

Clinical Profile:

ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 148932111
CNV End: 148953907
CNV Size: 21797
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

poultney_13_ASD_discovery_cases-case99HI1140A

Clinical Profile:

ASD case from AGRE (AGRE ID AU062604; NDAR ID NDAR_INVBJ302UPL)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 145608132
CNV End: 145788968
CNV Size: 180837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

prasad_12_ASD_discovery_cases-case168169

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143820620
CNV End: 144003268
CNV Size: 182649
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SEC22B, NOTCH2NL

prasad_12_ASD_discovery_cases-case62798L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 143822673
CNV End: 144003268
CNV Size: 180596
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SEC22B, NOTCH2NL

quintela_17_DD/ID_discovery_cases-caseID_302

Clinical Profile:

Behavioral problems

Cognitive Profile:

Mild intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145625775
CNV End: 146052881
CNV Size: 427107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

rosenfeld_10_ASD_discovery_cases-case20378

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145119362
CNV End: 145761156
CNV Size: 641794
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FMO5, CHD1L, BCL9, ACP6, GJA5

rosenfeld_10_ASD_discovery_cases-case22428

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144111146
CNV End: 144396898
CNV Size: 285752
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

rosenfeld_10_ASD_discovery_cases-case22428

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145119362
CNV End: 145761156
CNV Size: 641794
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FMO5, CHD1L, BCL9, ACP6, GJA5

rosenfeld_10_ASD_discovery_cases-case22992

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145119362
CNV End: 145761156
CNV Size: 641794
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FMO5, CHD1L, BCL9, ACP6, GJA5

rosenfeld_10_ASD_discovery_cases-case5753

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144111146
CNV End: 144396898
CNV Size: 285752
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

sahoo_11_DD_discovery_cases-patient2

Clinical Profile:

Developmental milestones: early motor milestones unremarkable, delayed speech and language (first words at 18 mos., early language milestones noticeable delayed at 2.5 yrs.). Substantial deficits in areas of social, fine motor, expressive language, language comprehension, numbers, & general development (Child Development Inventory Profile/CDIP). Behavioral problems: withdrawn, unresponsive to affection, averse to new situations, abnormal behaviors such as hand clapping. Dysmorphic features: none. Growth parameters: height, 98.7 cm (25th %ile); weight, 14.7 kg (10th %ile); head circumference, 48 cm (10th %ile). Family history: two older brothers with a history of speech & language delays.

Cognitive Profile:

Pervasive global developmental delay

Sahoo T , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 3 yrs. 7 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex (brothers with speech & language delays)
CNV Start: 145688356
CNV End: 146046021
CNV Size: 357666
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex (brothers with speech & language delays)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 148270914
CNV End: 148397943
CNV Size: 127030
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, LINC01731, LINC01138

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147733635
CNV End: 147903855
CNV Size: 170221
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147492209
CNV End: 147587606
CNV Size: 95398
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00624, BCL9

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 146995657
CNV End: 147094757
CNV Size: 99101
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-151P, NBPF12, NBPF13P

sanders_11_ASD_discovery_cases-11067.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145601946
CNV End: 145720709
CNV Size: 118764
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A

sanders_11_ASD_discovery_cases-11110.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 15.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147624993
CNV End: 147631053
CNV Size: 6061
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ACP6, BCL9

sanders_11_ASD_discovery_cases-11543.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 16.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147769620
CNV End: 147948006
CNV Size: 178387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GJA8, GJA5, GPR89B

sanders_11_ASD_discovery_cases-11712.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 5.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147365734
CNV End: 147429946
CNV Size: 64213
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

sanders_11_ASD_discovery_cases-11715.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147624993
CNV End: 147631053
CNV Size: 6061
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ACP6, BCL9

sanders_11_ASD_discovery_cases-11845.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_cases-12264.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 145627236
CNV End: 145813526
CNV Size: 186291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_cases-12265.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 145430980
CNV End: 148492647
CNV Size: 3061668
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, PPIAL4G, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

sanders_11_ASD_discovery_cases-12345.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147365734
CNV End: 147429946
CNV Size: 64213
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

sanders_11_ASD_discovery_cases-12355.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 145645929
CNV End: 145809105
CNV Size: 163177
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_cases-12366.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147624993
CNV End: 147640031
CNV Size: 15039
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ACP6, BCL9

sanders_11_ASD_discovery_cases-12420.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

sanders_11_ASD_discovery_cases-12617.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_cases-12821.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12836.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12852.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12888.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12907.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 13.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

sanders_11_ASD_discovery_cases-12955.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_cases-13041.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sato_12_ASD_discovery_cases_1-family1caseIII-5

Clinical Profile:

Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.

Cognitive Profile:

Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).

Sato D , et al. (2012)
Primary Diagnosis: Asperger

Age: 32 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: Simplex for ASD; multiplex for anxiety disorder
CNV Start: 143544813
CNV End: 143883837
CNV Size: 339025
Validation Description: -
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Unknown
Family Profile: Simplex for ASD; multiplex for anxiety disorder
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

sansovic_17_DD/ID/ASD_discovery_cases-case86

Clinical Profile:

Developmental delay/intellectual disability, Dysmorphism

Cognitive Profile:

-

Sansovi I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145635445
CNV End: 146019823
CNV Size: 384379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

sansovic_17_DD/ID/ASD_discovery_cases-case87

Clinical Profile:

Developmental delay/intellectual disability, Dysmorphism

Cognitive Profile:

-

Sansovi I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 11 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145635445
CNV End: 146019823
CNV Size: 384379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

shen_10_ASD_discovery_cases-ASD-09-025

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 143528755
CNV End: 143938804
CNV Size: 410050
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, NBPF17P, HIST2H2BB

shen_10_ASD_discovery_cases-ASD-09-026

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 145694468
CNV End: 145992415
CNV Size: 297948
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

shin_15_ASD/DD/ID_discovery_cases-case1

Clinical Profile:

Developmental delay, seizures, bilateral pes planovalgus, cleft palate, simian crease on left hand, unilateral cryptorchidism (right side)

Cognitive Profile:

-

Shin S , et al. (2015)
Primary Diagnosis: DD and seizures

Age: 1 yr.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145922537
CNV Size: 320592
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, GPR89A, ANKRD35, RNF115

szatmari_07_ASD_discovery_cases-NAAR007-D4-8172-111

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 143780000
CNV End: 144894000
CNV Size: 1114000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI35
Gene Content: PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89A, GPR89B, GPR89C, PDZK1P1

szatmari_07_ASD_discovery_cases-NAAR007-D5-8172-201

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 143780000
CNV End: 144894000
CNV Size: 1114000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI35
Gene Content: PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89A, GPR89B, GPR89C, PDZK1P1

szatmari_07_ASD_discovery_cases-NAAR007-D6-8172-202

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 143780000
CNV End: 144894000
CNV Size: 1114000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI35
Gene Content: PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89A, GPR89B, GPR89C, PDZK1P1

szatmari_07_ASD_discovery_cases-NAAR070-D8-HI3079

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 143780000
CNV End: 144894000
CNV Size: 1114000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI35
Gene Content: PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89A, GPR89B, GPR89C, PDZK1P1

tzetis_12_DD/ID_discovery_cases-case7

Clinical Profile:

Microcephaly, oligodontia, hypothyrodism, low birth weight, urinary reflux, speech delay, ASD,

Cognitive Profile:

-

Tzetis M , et al. (2012)
Primary Diagnosis: ASD

Age: -

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144972934
CNV End: 147510591
CNV Size: 2540000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF24, NBPF11, PPIAL4A, NBPF14, PPIAL4D, PPIAL4F, PPIAL4E, NBPF15, NBPF16

tuncay_22_ASD_discovery_cases-caseJC-57-3

Clinical Profile:

Diagnosis of ASD at 2 years. Family history: born to unaffected consanguineous parents of Middle Eastern ancestry.

Cognitive Profile:

-

Tuncay IO et al. (2022)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145665995
CNV End: 146776376
CNV Size: 1110382
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh37
Gene Content: FMO5, RNVU1-7, RNF115, NBPF12, NBPF11, PDIA3P1, CCT8P1, NBPF13P, GPR89A, PDZK1P1, HYDIN2, PFN1P8, RNVU1-8, PDZK1, PRKAB2, RNA5SP57, CHD1L, CD160

tuncay_23_ASD_discovery_cases-caseMCD-032-4

Clinical Profile:

Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.

Cognitive Profile:

-

Tuncay IO et al. (2023)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146420618
CNV End: 146476190
CNV Size: 55573
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37
Gene Content: -

vaags_11_ASD_replication_cases_2-probandF4-003

Clinical Profile:

Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay

Cognitive Profile:

Leiter-R IQ: incomplete (test attempted but proband failed to complete)

Vaags AK , et al. (2012)
Primary Diagnosis: Autism

Age: 3 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143546346
CNV End: 143729371
CNV Size: 183026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, NBPF17P

vaags_11_ASD_replication_cases_2-probandF4-003

Clinical Profile:

Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay

Cognitive Profile:

Leiter-R IQ: incomplete (test attempted but proband failed to complete)

Vaags AK , et al. (2012)
Primary Diagnosis: Autism

Age: 3 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601946
CNV End: 145823420
CNV Size: 221475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

vaags_11_ASD_replication_cases_2-probandF4-003

Clinical Profile:

Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay

Cognitive Profile:

Leiter-R IQ: incomplete (test attempted but proband failed to complete)

Vaags AK , et al. (2012)
Primary Diagnosis: Autism

Age: 3 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143485338
CNV End: 143515297
CNV Size: 29960
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

van_den_bossche_12_ID_discovery_cases-Sc7161

Clinical Profile:

Age of onset: 15.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: ID

Age: 51

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147211052
CNV End: 147802372
CNV Size: 591321
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_ID_discovery_cases-Sc7525

Clinical Profile:

Age of onset: 16. Schizophrenia, ASD, Klinefelter.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: ID and SCZ and ASD

Age: 54

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_SCZ_discovery_cases-Sc11501

Clinical Profile:

Age of onset: NA.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: SCZ

Age: 29

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_SCZ_discovery_cases-Zas9077

Clinical Profile:

Age of onset: 19.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: SCZ

Age: 42

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_SCZ_discovery_cases-Zas9802

Clinical Profile:

Age of onset: 19.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: SCZ

Age: 39

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

wang_10_ASD_discovery_cases-AC0037

Clinical Profile:

NA

Cognitive Profile:

NA

Wang LS , et al. (2010)
Primary Diagnosis: ASD

Age: 31

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 147004967
CNV End: 147886156
CNV Size: 881190
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

woodbury-smith_14_ASD_discovery_cases-case7

Clinical Profile:

Family history: broad autism phenotype (BAP)-defined father.

Cognitive Profile:

-

Woodbury-Smith M , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
CNV Start: 147350118
CNV End: 147459439
CNV Size: 109322
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Genome Build: GRCh38
Gene Content: OR13Z1P, OR13Z2P, LINC00624

xu_16_ASD/DD/ID_discovery_cases-case34

Clinical Profile:

Primary diagnosis of developmental delay based on DQ scores.

Cognitive Profile:

-

Xu Q , et al. (2016)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145430980
CNV End: 148359038
CNV Size: 2928059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

xu_16_ASD/DD/ID_discovery_cases-case34

Clinical Profile:

Primary diagnosis of developmental delay based on DQ scores.

Cognitive Profile:

-

Xu Q , et al. (2016)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145642988
CNV End: 146062451
CNV Size: 419464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case2

Clinical Profile:

NA

Cognitive Profile:

NA

Ye T , et al. (2012)
Primary Diagnosis: Schizophrenia

Age: NA (>13 yrs.)

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145430980
CNV End: 148439136
CNV Size: 3008157
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2

yin_16_ASD_discovery_cases-case32

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144991278
CNV End: 145290292
CNV Size: 299015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: LOC653513, PDE4DIP, BC065231, BX647792, SEC22B, NOTCH2NL, NBPF10, LOC100288142, NBPF9

yin_16_ASD_discovery_cases-case33

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144991278
CNV End: 145290292
CNV Size: 299015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: LOC653513, PDE4DIP, BC065231, BX647792, SEC22B, NOTCH2NL, NBPF10, LOC100288142, NBPF9

yin_16_ASD_discovery_cases-case34

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145809393
CNV End: 145829794
CNV Size: 20402
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: POLR3C, RNF115

yuen_17_ASD_discovery_cases-case2-0305-003

Clinical Profile:

Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A

Cognitive Profile:

-

C Yuen RK et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145687064
CNV End: 146051002
CNV Size: 363939
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115

yuen_17_ASD_discovery_cases-case2-0305-004

Clinical Profile:

Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A

Cognitive Profile:

-

C Yuen RK et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145687064
CNV End: 146051002
CNV Size: 363939
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

coe_14_ASD/DD/ID_discovery_controls-control44

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control45

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control46

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control47

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control48

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control49

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control50

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control51

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control52

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control53

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control54

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control55

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

coe_14_ASD/DD/ID_discovery_controls-control56

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115

engchuan_15_ASD_discovery_controls-controlB175984_1007852624

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145658467
CNV End: 145813526
CNV Size: 155060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB367211_1007844575

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB392747_1007873163

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB557049_1007853857

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145658467
CNV End: 145813526
CNV Size: 155060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB586615_1007875854

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148255115
CNV End: 148397943
CNV Size: 142829
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, LINC01731, LINC01138

engchuan_15_ASD_discovery_controls-controlB639462_1007875232

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB667482_1007854320

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145658467
CNV End: 145813526
CNV Size: 155060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB907712_1007852916

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlB984152_1007842480

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148191100
CNV Size: 1203260
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, FMO5, LINC00624, BCL9, GPR89B, NBPF11

engchuan_15_ASD_discovery_controls-controlB984152_1007842480

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148289238
CNV End: 148350106
CNV Size: 60869
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR5087, RNU1-122P, LINC01138

engchuan_15_ASD_discovery_controls-controlHABC_900065_900065

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146006635
CNV End: 146046863
CNV Size: 40229
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900102_900102

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145672100
CNV End: 145809105
CNV Size: 137006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900156_900156

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900243_900243

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146386464
CNV End: 146608260
CNV Size: 221796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900291_900291

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146377870
CNV End: 146725700
CNV Size: 347830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900297_900297

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146336720
CNV End: 146725700
CNV Size: 388980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900302_900302

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143398568
CNV End: 143525572
CNV Size: 127005
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNA5SP533, NKAIN1P1

engchuan_15_ASD_discovery_controls-controlHABC_900344_900344

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145693801
CNV End: 145809105
CNV Size: 115305
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900357_900357

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146386464
CNV End: 146725700
CNV Size: 339236
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900503_900503

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145627236
CNV End: 146046863
CNV Size: 419628
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900627_900627

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900634_900634

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146336720
CNV End: 146828254
CNV Size: 491534
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900804_900804

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145645929
CNV End: 145813526
CNV Size: 167598
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_900884_900884

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147377422
CNV End: 147455656
CNV Size: 78235
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR13Z1P, OR13Z2P, LINC00624

girirajan_11_ASD_discovery_controls-NIMH_141

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148796888
CNV End: 148939865
CNV Size: 142978
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, RNU2-38P, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_162

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148793458
CNV End: 148936613
CNV Size: 143156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_170

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148796888
CNV End: 148936613
CNV Size: 139726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_179

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148793458
CNV End: 148901777
CNV Size: 108320
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_182

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148895213
CNV End: 148959446
CNV Size: 64234
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_184

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148804487
CNV End: 148936209
CNV Size: 131723
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_196

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148795791
CNV End: 148901777
CNV Size: 105987
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_200

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148793458
CNV End: 148936209
CNV Size: 142752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_214

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148804487
CNV End: 148936613
CNV Size: 132127
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_215

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148795791
CNV End: 148936613
CNV Size: 140823
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

engchuan_15_ASD_discovery_controls-controlHABC_902634_902634

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 145822604
CNV Size: 220659
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

engchuan_15_ASD_discovery_controls-controlHABC_902844_902844

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148255115
CNV End: 148329566
CNV Size: 74452
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-120P, LINC01731, LINC01138

girirajan_11_ASD_discovery_controls-NIMH_279

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148894754
CNV End: 148959446
CNV Size: 64693
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_301

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148793458
CNV End: 148936613
CNV Size: 143156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_306

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148793458
CNV End: 148901777
CNV Size: 108320
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP

girirajan_11_ASD_discovery_controls-NIMH_307

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148894754
CNV End: 148956750
CNV Size: 61997
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

girirajan_12_ASD/DD/ID_discovery_controls-control1

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_controls-control2

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_12_ASD/DD/ID_discovery_controls-control3

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147101794
CNV End: 147921262
CNV Size: 819469
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

girirajan_13a_ASD_discovery_controls3-control1

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_controls3-control2

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13a_ASD_discovery_controls3-control3

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144825000
CNV End: 146075000
CNV Size: 1250000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF11, NBPF24

girirajan_13b_ASD_discovery_controls-1506105511

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148901777
CNV End: 148959446
CNV Size: 57670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU2-38P, PDE4DIP

girirajan_13b_ASD_discovery_controls-16409111183

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_controls-1707107618

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147377171
CNV End: 147456636
CNV Size: 79466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR13Z1P, OR13Z2P, LINC00624

girirajan_13b_ASD_discovery_controls-20209111301

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_controls-23107108218

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

kaminsky_11_DD/ID/ASD_discovery_controls-control0010

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0011

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0012

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0013

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0014

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0015

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 147105904
CNV End: 147922392
CNV Size: 816489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

kaminsky_11_DD/ID/ASD_discovery_controls-control0039

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0040

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0041

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0042

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0043

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0044

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0045

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0046

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0047

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0048

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0049

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0050

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

kaminsky_11_DD/ID/ASD_discovery_controls-control0051

Clinical Profile:

Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).

Cognitive Profile:

NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145601946
CNV End: 146033747
CNV Size: 431802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

girirajan_13b_ASD_discovery_controls-30706106486

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_controls-44906106952

Clinical Profile:

Ethnicity: Mixed Race

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_controls-54305104360

Clinical Profile:

Ethnicity: Mixed Race

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143821667
CNV End: 143901240
CNV Size: 79573
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

girirajan_13b_ASD_discovery_controls-58505104521

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB

girirajan_13b_ASD_discovery_controls-72204103059

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 143808348
CNV End: 143970710
CNV Size: 162362
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL

girirajan_13b_ASD_discovery_controls-8206105715

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145689719
CNV End: 145802320
CNV Size: 112602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

krumm_13_ASD_discovery_controls-control13215.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13215. SRS score of 51.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601946
CNV End: 146019735
CNV Size: 417790
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115

levy_11_ASD_discovery_controls-11207.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147768798
CNV End: 147979436
CNV Size: 210639
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GJA8, GJA5, GPR89B

levy_11_ASD_discovery_controls-11207.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 143542853
CNV End: 143964413
CNV Size: 421561
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, NBPF17P, HIST2H2BB, FAM72C

levy_11_ASD_discovery_controls-12197.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 145601946
CNV End: 145809109
CNV Size: 207164
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control2

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control3

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control4

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

sanders_11_ASD_discovery_controls-11067.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 16.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 145601946
CNV End: 145711946
CNV Size: 110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, GPR89A

poultney_13_ASD_discovery_controls-control05C43468A

Clinical Profile:

NIMH Control (NIMH ID 22763)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 148809307
CNV End: 148953907
CNV Size: 144601
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP88, RNU2-38P, PDE4DIP

poultney_13_ASD_discovery_controls-control05C45836

Clinical Profile:

NIMH Control (NIMH ID 26071)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 144994589
CNV End: 145115889
CNV Size: 121301
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37
Gene Content: LOC100288142, NBPF9, PDE4DIP, SEC22B

sanders_11_ASD_discovery_controls-11543.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 18.1

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 147769620
CNV End: 147924683
CNV Size: 155064
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GJA8, GJA5

sanders_11_ASD_discovery_controls-12197.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_controls-12345.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 147365734
CNV End: 147429946
CNV Size: 64213
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624

sanders_11_ASD_discovery_controls-12617.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 14.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 145663483
CNV End: 145804609
CNV Size: 141127
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115

sanders_11_ASD_discovery_controls-12785.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 16.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 147041343
CNV End: 147063850
CNV Size: 22508
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12852.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 147391631
CNV End: 147410154
CNV Size: 18524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

van_den_bossche_12_BPD_discovery_controls-Bas1325

Clinical Profile:

-

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 27

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_BPD_discovery_controls-Berk2056

Clinical Profile:

Congenital ventral septal defect, frequent infectious diseases

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 46

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144942621
CNV End: 147274486
CNV Size: 2332000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5

van_den_bossche_12_ID_discovery_controls-Bas1325

Clinical Profile:

-

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 27

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_ID_discovery_controls-Berk2056

Clinical Profile:

Congenital ventral septal defect, frequent infectious diseases

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 46

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144942621
CNV End: 147274486
CNV Size: 2332000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5

van_den_bossche_12_MDD_discovery_controls-Bas1325

Clinical Profile:

-

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 27

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_MDD_discovery_controls-Berk2056

Clinical Profile:

Congenital ventral septal defect, frequent infectious diseases

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 46

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144942621
CNV End: 147274486
CNV Size: 2332000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5

van_den_bossche_12_SCZ_discovery_controls-Bas1325

Clinical Profile:

-

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 27

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 147100143
CNV End: 147802372
CNV Size: 702230
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

van_den_bossche_12_SCZ_discovery_controls-Berk2056

Clinical Profile:

Congenital ventral septal defect, frequent infectious diseases

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2012)
Primary Diagnosis: Control

Age: 46

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144942621
CNV End: 147274486
CNV Size: 2332000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: PDE4DIP, SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C, NBPF24, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5
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