Copy Number Variants / 1q21.1

1q21.1

Case population data
Control population data
Type
Deletion-Duplication
Average Length
774298
Range
145900678-147965543
Associated Human Genes
NOTCH2NL, RBM8A
Associated Animal Models
-
Autism Reports
47
Populations
57 (51 case / 6 control)
Individuals
905 (792 case / 113 control)
Summary

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

Reports related to 1q21.1 (47 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)
Show all Case Details Show all Cohort Details

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:

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 Genome-Wide Human SNP Array 6.0
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

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:

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:

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 (n=589) or array SNP (n=108)

Validation Method:

None

Platform: Agilent 244A, Affy NspI + Affy SytI, or Affy 5.0
Software: CGH Analytics or DNA Analytics software (aCGH)
Algorithm: BRLMM & CNAT4 (Affy 500K); Partek Genomic Suite (Affy 5.0)
Geographical Ancestry: -

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:

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 or Affymetrix CytoScan HD), or solid phase hybridization (Illumina 1M or Illumina OMNI 2.5M)

Platform: Complete Genomics (n=1233), Illumina HiSeq 2000 (n=561), HiSeq X (n=3411)
Software: -
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 250K Nsp or Syt microarray
Software: CNAG v2.0
Algorithm: HMM
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:

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:

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:

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), and/or array SNP (Affy 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP & iPattern
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, and/or long-range PCR

Platform: Illumina 1M v.1 and v3. arrays
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

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:

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

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 or IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

1q21.1

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

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:

Unrelated ASD cases from Canada and Europe. Canadian cases recruited from five sites (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre); European cases recruited by PARIS (Paris Autism Research International Sibpair) study and specialized clincial centers in France, Swede

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, or solid phase hybridization

Validation Method:

None

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

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:

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 (n=334) or Illumina 1M v3 (n=840)
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:

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:

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

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:

Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.

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: Affy 10K v2 array
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 (n=145) or 4x180K (n=219)
Software: Feature Extraction V10.10.1.1; Agilent DNA Analytics V3.5 or Agilent Genomic Wrokbench 6.5
Algorithm: Agilent ADM1, threshold 6.7
Geographical Ancestry: Greece

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 (n=18) or array SNP (n=97)

Validation Method:

None

Platform: BlueGnome CytoChip v2 (n=18), Affymetrix 6.0 (n=69), or Affymetrix Cytoscan HD (n=28)
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A

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:

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:

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:

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 (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
Software: -
Algorithm: -
Geographical Ancestry: -

1q21.1

Description:

Replication cohort consisting of patients referred to the Mayo Clinic

Diagnosis:

Autism or pervasive developmental disorder (PDD)

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

Age Min: 42
Age Max: 42
Average: 42

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

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

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

1q21.1

Description:

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:

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:

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 2.M SNP array (n=126) and Affymetrix CytoScan High-Density SNP array (n=447)
Software: Chromosome Analysis Suite (ChAS), version 1.2.2 (Affymetrix)
Algorithm: -
Geographical Ancestry: North West Spain

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: Chromosome Analysis Suite v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

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:

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:

Solid phase hybridization (n=56) or aCGH (n=24)

Validation Method:

Solid phase hybridization (Illumina)

Platform: Illumina610-Quad SNP-array (n=20), Illumina OmniExpress SNP-array (n=36), or BlueGnome CytoChip ISCA 8x60k v2.0 array (n=24)
Software: Illumina BlueFuse Multi v3.1 (aCGH)
Algorithm: PennCNV (array-SNP)
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian

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 or 180K, Affymetrix 6.0
Software: Agilent DNA Analytics (aCGH); Birdsuite, iPattern, and Genotyping Console (array SNP)
Algorithm: -
Geographical Ancestry: NA

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, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
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:

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 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 (Multiplex Amplicon Quantification)

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:

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, and iPattern
Algorithm: -
Geographical Ancestry: US and Canada

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:

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 or array SNP

Validation Method:

FISH or qPCR

Platform: aCGH: BACs aCGH (Integrachip 0.8 Mb), Agilent 44K oligoarray, or Agilent 180K oligoarray; array SNP: Affymetrix 6.0 Chip
Software: -
Algorithm: -
Geographical Ancestry: Italy

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 (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
Software: -
Algorithm: -
Geographical Ancestry: -

1q21.1

Description:

Patients with 16q24.2 deletions. Patient 1 recruited at the University of Alberta, Edmonton for indication of congenital renal malformation; all other patients screened at three different clinical genetic diagnostic centers (patients 2-3 identified at the Hospital for Sick Children, Toronto; patients 4-6 and 14-35 identified at Signature Genomic Laboratories; patients 7-13 identified at the Mayo

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:

Solid phase hybridization (n=1) or aCGH (n=34)

Validation Method:

None

Platform: Illumina Omni 2.5M-Quad BeadChip (n=1), SignatureChipOS V1.0 105K array or SignatureChipOS V2.0 or V3.0 135K array (n=24), BACs aCGH (n=1), Agilent 4x180K ISCA V2 array (n=2), Agilent ISCA 44K or 180K
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 (Multiplex Amplicon Quantification)

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:

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 (Multiplex Amplicon Quantification)

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 (Multiplex Amplicon Quantification)

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:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); 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 (n=45,744 from Signature Genomic Labs)

Validation Method:

FISH

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

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

wang_10_ASD_discovery_cases-AC0037

Clinical Profile:

NA

Cognitive Profile:

NA

Wang LS , et al. (2010)
Primary Diagnosis: ASD

Age: 31

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 147004967
CNV End: 147886156
CNV Size: 881190
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

gai_11_ASD_discovery_cases-AU1163303

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gai_11_ASD_discovery_cases-AU1163304

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gai_11_ASD_discovery_cases-AU1610306

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gai_11_ASD_discovery_cases-AU1688302

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

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

itsara_10_ASD_discovery_cases-HI3079

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 147075547
CNV End: 148354530
CNV Size: 1278984
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

itsara_10_ASD_discovery_cases-HI3745

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 145689573
CNV End: 145809105
CNV Size: 119533
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115

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: 146964168
CNV End: 148572213
CNV Size: 1608046
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, 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, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, NBPF14

levy_11_ASD_discovery_cases-11207.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 147304144
CNV End: 147725607
CNV Size: 421464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: FCGR1C, LOC388692

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: -

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, 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

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: 147325480
CNV End: 147656085
CNV Size: 330605
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

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-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: 147291143
CNV End: 147656085
CNV Size: 364942
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

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: 147325480
CNV End: 147656085
CNV Size: 330605
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

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: 147325480
CNV End: 147656085
CNV Size: 330605
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

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

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: -

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: 61006478
CNV End: 62410831
CNV Size: 1404354
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

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: 147291143
CNV End: 147656085
CNV Size: 364942
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

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: 149263680
CNV End: 149325758
CNV Size: 62079
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

morrow_08_ASD_discovery_cases-case6301

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 145820000
CNV End: 146035000
CNV Size: 215000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

shen_10_ASD_discovery_cases-ASD-09-025

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 147290000
CNV End: 147700000
CNV Size: 400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: NCBI36
Gene Content: LOC388692, FCGR1C

shen_10_ASD_discovery_cases-ASD-09-026

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 145694468
CNV End: 145992415
CNV Size: 297948
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

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, GPR89A, ANKRD35, RNF115

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: 146987841
CNV End: 148359038
CNV Size: 1371198
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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

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, 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: 145335791
CNV End: 146066164
CNV Size: 730374
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, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, NBPF10, NBPF20, GPR89A, ANKRD35, RNF115

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: 146987841
CNV End: 148492647
CNV Size: 1504807
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, 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, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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: 146987841
CNV End: 148359881
CNV Size: 1372041
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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: 146987841
CNV End: 148359881
CNV Size: 1372041
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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: -

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

coe_14_ASD/DD/ID_discovery_cases-case328

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case329

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case330

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case331

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case332

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case333

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case334

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case335

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case336

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case337

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case338

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case339

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case340

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case341

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case342

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case343

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case344

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case345

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case346

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case347

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case348

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case349

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case350

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case351

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case352

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case353

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case354

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case355

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case356

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case357

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case358

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case359

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case360

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case361

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case362

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case363

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case364

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case365

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case366

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case367

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case368

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case369

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case370

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case371

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case372

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case373

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case374

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case375

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case376

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case377

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case378

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case379

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case380

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case381

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case382

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case383

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case384

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case385

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case386

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case387

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case388

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case389

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case390

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case391

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case392

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case393

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case394

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case395

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case396

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case397

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case398

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case399

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case400

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case401

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case402

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case403

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case404

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case405

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case406

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case407

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

coe_14_ASD/DD/ID_discovery_cases-case408

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144000000
CNV End: 144340000
CNV Size: 340000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NBPF20, NBPF12, NBPF10, HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

girirajan_13a_DD_discovery_cases-DDcase1

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase2

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase3

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase4

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase5

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase6

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase7

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase8

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase9

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

griswold_12_ASD_discovery_cases-case7804

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 147032152
CNV End: 147924683
CNV Size: 892532
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

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: 147029795
CNV End: 148359881
CNV Size: 1330087
Validation Description: qPCR (Griswold et al. 2011, PMID: 21360829)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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

girirajan_13a_DD_discovery_cases-DDcase10

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase11

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase12

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase13

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase14

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase15

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase16

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase17

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase18

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase19

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase20

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase21

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase22

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase23

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase24

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase25

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 145816365
CNV End: 146043255
CNV Size: 226891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, ANKRD35, RNF115

girirajan_13a_DD_discovery_cases-DDcase26

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase27

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase28

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase29

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase30

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase31

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase32

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase33

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase34

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase35

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase36

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase37

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase38

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase39

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase40

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase41

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase42

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase43

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase44

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase45

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase46

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase47

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase48

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase49

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase50

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase51

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase52

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase53

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase54

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase55

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase56

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase57

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase58

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase59

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase60

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase61

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase62

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase63

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase64

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase65

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase66

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase67

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase68

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase69

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase70

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase71

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase72

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase73

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase74

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase75

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase76

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase77

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase78

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase79

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase80

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase81

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase82

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase83

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase84

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase85

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase86

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase87

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase88

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase89

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase90

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase91

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase92

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase93

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase94

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase95

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase96

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase97

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

girirajan_13a_DD_discovery_cases-DDcase98

Clinical Profile:

N/A

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

griswold_12_ASD_discovery_cases-case17331

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 147032152
CNV End: 147924683
CNV Size: 892532
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9

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, GPR89A, ANKRD35, RNF115

rosenfeld_10_ASD_discovery_cases-case5753

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144111146
CNV End: 144396898
CNV Size: 285752
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

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: 61006478
CNV End: 62410831
CNV Size: 1404354
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

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: 147029795
CNV End: 148359881
CNV Size: 1330087
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

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, 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: 145335791
CNV End: 146066164
CNV Size: 730374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PFN1P3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, NBPF10, NBPF20, GPR89A, 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, 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

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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, 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: 146987841
CNV End: 148234205
CNV Size: 1246365
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, FMO5, LINC00624, BCL9, GPR89B, NBPF11

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: 146987841
CNV End: 148439136
CNV Size: 1451296
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU1-151P, PDIA3P1, 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, NBPF12, NBPF13P, PRKAB2, CHD1L, ACP6, GJA5, LINC01731, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138

rosenfeld_10_ASD_discovery_cases-case20378

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 145119362
CNV End: 145761156
CNV Size: 641794
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FMO5, CHD1L, BCL9, ACP6, GJA5

rosenfeld_10_ASD_discovery_cases-case22428

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 144111146
CNV End: 144396898
CNV Size: 285752
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HFE2, TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115

rosenfeld_10_ASD_discovery_cases-case22428

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown