1q21.1
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
896313Range
145900678-147965543Associated Human Genes
-Associated Mouse Models
-Autism Reports
53Populations
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.
External Links
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) |
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:
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:
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:
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:
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 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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
gai_11_ASD_discovery_cases-AU1163303
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
griswold_12_ASD_discovery_cases-case17331
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
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
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
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
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
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-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
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
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_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
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
levy_11_ASD_discovery_cases-11207.p1
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: -
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-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
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
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-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
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
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
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
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
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
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
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
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
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
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: -
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
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
shen_10_ASD_discovery_cases-ASD-09-025
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
leite_22_DD/ID_discovery_cases-case029
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
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: -
No control populations reported.
coe_14_ASD/DD/ID_discovery_controls-control44
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
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
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_141
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
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
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
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
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
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
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
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
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
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
girirajan_11_ASD_discovery_controls-NIMH_279
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
girirajan_13b_ASD_discovery_controls-30706106486
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
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
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
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
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
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
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
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
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
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
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
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
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
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: -
poultney_13_ASD_discovery_controls-control05C43468A
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
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-11067.s1
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
sanders_11_ASD_discovery_controls-11543.s1
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
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
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
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
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
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
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
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
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
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)