Copy Number Variants / 17q12

17q12

Case population data
Control population data
Type
Deletion-Duplication
Average Length
916702
Range
37228545-39077997
Associated Human Genes
CACNB1, GGNBP2, PPP1R1B
Associated Mouse Models
-
Autism Reports
58
Populations
71 (65 case / 6 control)
Individuals
475 (380 case / 95 control)
Summary

Deletions and duplications at the 17q12 locus have been observed not only in individuals with ASD, but also in individuals with schizophrenia. CNVs at the 17q12 locus may also be responsible for RCAD (renal cysts and diabetes).

Reports related to 17q12 (58 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
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 Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Loirat C , et al. (2010)
6 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , 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 Major Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Moreno-De-Luca D , et al. (2010)
9 Major Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Bremer A , et al. (2011)
10 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
11 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)
12 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
13 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)
14 Major Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB , et al. (2011)
15 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
16 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
17 Major Complex autism spectrum disorder in a patient with a 17q12 microduplication. Brandt T , et al. (2012)
18 Minor Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. George AM , et al. (2012)
19 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
20 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
21 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
22 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
23 Minor Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Beunders G , 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 Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
26 Minor Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
27 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
28 Minor Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Soorya L , et al. (2013)
29 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
30 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
31 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
32 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)
33 Major Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. Palumbo P , et al. (2014)
34 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
35 MiMinorr 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Reinthaler EM , et al. (2014)
36 Major Clinical report of a 17q12 microdeletion with additionally unreported clinical features. Roberts JL , et al. (2014)
37 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
38 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
39 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
40 Minor The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
41 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
42 Minor RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Soueid J , et al. (2016)
43 Minor The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Wenger TL , et al. (2016)
44 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
45 Minor 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Rasmussen M , et al. (2016)
46 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
47 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
48 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
49 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)
50 Minor Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder. Li SJ , et al. (2018)
51 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
52 Major NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. Al Shehhi M , et al. (2018)
53 Minor De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. Fan Y , et al. (2018)
54 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
55 Major Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Guo H , et al. (2018)
56 Minor Both rare and common genetic variants contribute to autism in the Faroe Islands. Leblond CS , et al. (2019)
57 Minor Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019)
58 Minor The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing Wang J et al. (2020)
Show all Case Details Show all Cohort Details

17q12

Description:

Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada

Diagnosis:

Intellectual disability and/or mulitple congenital anomalies

Beunders G , et al. (2013)
Cohort Size: 49684

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1819291

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
Software: -
Algorithm: -
Geographical Ancestry: NA

17q12

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: 30
Age Max: 30
Average: 30

Male: 100
Female: -
Unknown: -
CNV Size: 1300000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

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

17q12

Description:

Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)

Diagnosis:

REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD

Brandler WM , et al. (2018)
Cohort Size: 880

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 174416

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WGS

Validation Method:

PCR, array SNP

Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A

17q12

Description:

Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group

Diagnosis:

94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect

Al Shehhi M , et al. (2018)
Cohort Size: 34

Age Min: 115
Age Max: 115
Average: 115

Male: 100
Female: -
Unknown: -
CNV Size: 1392864

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")

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

17q12

Description:

223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden

Diagnosis:

25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR

Bremer A , et al. (2011)
Cohort Size: 223

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 110000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

MLPA, FISH

Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish

17q12

Description:

ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

Diagnosis:

ASD

Celestino-Soper PB , et al. (2011)
Cohort Size: 99

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 1849452

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

Solid phase hybridization (Illumina 1M SNP), qPCR

Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -

17q12

Description:

Only child of non-consanguinenous parents of Ashkenazi Jewish origin with no family history of intellectual disability, autism/ASD, or other psychiatric illness

Diagnosis:

Diagnosis of autism; diagnosis based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Cognitive assessment made using Mullen Scales of Early Learning, adaptive functioning evaluation made with VABS-II.

Brandt T , et al. (2012)
Cohort Size: 1

Age Min: 60
Age Max: 60
Average: 60

Male: 100
Female: -
Unknown: -
CNV Size: 1400000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, array SNP (Affymetrix 6.0)

Platform: Agilent Human CGH 1X244A
Software: DNA Analytics 5.0.14; Nexus5 Copy Number, Discovery Edition 5.1
Algorithm: ADM-1
Geographical Ancestry: Ashkenazi Jewish

17q12

Description:

Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)

Diagnosis:

Cases diagnosed with ASD

Brandler WM , et al. (2018)
Cohort Size: 1979

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2257

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A

17q12

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: 1390000

Deletion: 20
Duplication: 23

Total CNV: 43
Discovery Method:

aCGH

Validation Method:

None

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

17q12

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: 1702285

Deletion: 10
Duplication: 10

Total CNV: 20
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

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

17q12

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: 1012482

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

17q12

Description:

Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene

Diagnosis:

All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors

Fan Y , et al. (2018)
Cohort Size: 3

Age Min: 48
Age Max: 48
Average: 48

Male: 100
Female: -
Unknown: -
CNV Size: 383673

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
Software: -
Algorithm: -
Geographical Ancestry: Chinese

17q12

Description:

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

Diagnosis:

All cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 1262333

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

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

17q12

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: 86
Female: 14
Unknown: -
CNV Size: 1088070

Deletion: 0
Duplication: 7

Total CNV: 7
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: -

17q12

Description:

Female patient referred to clinical genetics service for evaluation due to family history of learning difficulties

Diagnosis:

Behavioral problems (attention deficit, hyperactivity, disruptive behavior) and learning difficulties

George AM , et al. (2012)
Cohort Size: 1

Age Min: 84
Age Max: 84
Average: 84

Male: -
Female: 100
Unknown: -
CNV Size: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M
Software: Affymetrix ChAS v.1.0.1
Algorithm: -
Geographical Ancestry: New Zealand

17q12

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: 26
Age Max: 216
Average: 143.5

Male: 3
Female: 3
Unknown: 94
CNV Size: 1410000

Deletion: 26
Duplication: 35

Total CNV: 61
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

17q12

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: 2305459

Deletion: 3
Duplication: 2

Total CNV: 5
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

17q12

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: 2305459

Deletion: 14
Duplication: 0

Total CNV: 14
Discovery Method:

N/A

Validation Method:

None

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

17q12

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: 88437

Deletion: 0
Duplication: 14

Total CNV: 14
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

17q12

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 28
Age Max: 28
Average: 28

Male: 100
Female: -
Unknown: -
CNV Size: 66288

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian

17q12

Description:

Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection

Diagnosis:

Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.

Guo H , et al. (2018)
Cohort Size: 213

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1591999

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

aCGH, Sanger sequencing

Platform: Illumina HiSeq X Ten
Software: -
Algorithm: dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
Geographical Ancestry: N/A

17q12

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: 2038419

Deletion: 19
Duplication: 26

Total CNV: 45
Discovery Method:

aCGH

Validation Method:

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

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

17q12

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: 80
Female: 20
Unknown: -
CNV Size: 1211925

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection

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

17q12

Description:

Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

Diagnosis:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

Kanduri C , et al. (2015)
Cohort Size: 80

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1428808

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

17q12

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: 64
Female: 36
Unknown: -
CNV Size: 1262332

Deletion: 10
Duplication: 5

Total CNV: 15
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

17q12

Description:

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

Diagnosis:

Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.

Kushima I , et al. (2018)
Cohort Size: 1108

Age Min: 108
Age Max: 324
Average: 232.8

Male: 40
Female: 60
Unknown: -
CNV Size: 1851536

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

N/A

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

17q12

Description:

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

Diagnosis:

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

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

Age Min: 108
Age Max: 324
Average: 232.8

Male: 40
Female: 60
Unknown: -
CNV Size: 1638045

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

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

17q12

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: -
Female: 100
Unknown: -
CNV Size: 1487177

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

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

17q12

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: 50
Female: -
Unknown: 50
CNV Size: 1434000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

17q12

Description:

Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.

Diagnosis:

All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).

Leblond CS , et al. (2019)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1555900

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization, WES

Validation Method:

None

Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands

17q12

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 975400

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African

17q12

Description:

Autistic patients belonging to a cohort of 53 children with kidney disease (cystic or hyperechogenic kidneys) and a heterozygous deletion encompassing the HNF1B gene.

Diagnosis:

Diagnosis of autism based on American Psychiatric Association criteria and ADI-R scores.

Loirat C , et al. (2010)
Cohort Size: 3

Age Min: 42
Age Max: 108
Average: 65.2

Male: 100
Female: -
Unknown: -
CNV Size: 1849783

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

qmPCR

Validation Method:

Solid phase hybridization (Illumina HumanCNV370)

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: France

17q12

Description:

Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research

Diagnosis:

Diagnosis of ASD made according to DSM-IV

Li SJ , et al. (2018)
Cohort Size: 13

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 194285

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Low-coverage WGS

Validation Method:

None

Platform: Illumina HiSeq 2000 or 2500 analyzers
Software: -
Algorithm: PSCC
Geographical Ancestry: Chinese

17q12

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: 33000

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Array SNP

Validation Method:

-

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

17q12

Description:

Samples from International Standards for Cytogenomic Arrays (ISCA) Consortium

Diagnosis:

ASD (referring diagnosis in 15-20% of cases), developmental delay, and/or intellectual disability

Moreno-De-Luca D , et al. (2010)
Cohort Size: 15749

Age Min: 12
Age Max: 12
Average: 12

Male: 47
Female: 53
Unknown: -
CNV Size: 1400000

Deletion: 18
Duplication: 21

Total CNV: 39
Discovery Method:

aCGH

Validation Method:

FISH, qPCR

Platform: Agilent 4x44K, 2x105K, 4x180K
Software: -
Algorithm: -
Geographical Ancestry: -

17q12

Description:

Samples from SSC and deCODE Genetic (Iceland)

Diagnosis:

ASD/neurodevelopmental delay

Moreno-De-Luca D , et al. (2010)
Cohort Size: 1182

Age Min: 12
Age Max: 12
Average: 12

Male: 47
Female: 53
Unknown: -
CNV Size: 1400000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

-

Platform: Illumina Human 1M and 1M Duo microarrays (SSC samples), Illumina SNP microarrays (all others)
Software: BeadStudio
Algorithm: PennCNV, CNVision v1.0 (PennCNV, QuantiSNP v1.1, GNOSIS)
Geographical Ancestry: 31 Chinese, 728 European American, 6 Japanese, 41 African American, 376 Icelandic

17q12

Description:

Samples from SGENE Consortium and GAIN

Diagnosis:

Schizophrenia

Moreno-De-Luca D , et al. (2010)
Cohort Size: 6340

Age Min: 12
Age Max: 12
Average: 12

Male: 47
Female: 53
Unknown: -
CNV Size: 1400000

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 6.0, Illumina
Software: -
Algorithm: Penn CNV
Geographical Ancestry: 565 Denmark, 648 Scotland, 1086 Germany, 91 UK, 84 Italy, 187 Finland, 613 Holland, 274 Norway, 625 Iceland, 952 African American, 1215 European American

17q12

Description:

SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

Mulle JG , et al. (2013)
Cohort Size: 554

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 984236

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

Solid phase hybridization

Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish

17q12

Description:

Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).

Diagnosis:

Cases assessed with ADI-R

Nava C , et al. (2013)
Cohort Size: 194

Age Min: 195
Age Max: 195
Average: 195

Male: 100
Female: -
Unknown: -
CNV Size: 76000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France

17q12

Description:

12-year-old male patient born to non-consanguineous parents with no family history of intellectual disability, autism, or other psychiatric illness

Diagnosis:

Intellectual disability, speech delay, autistic features, and ADHD

Palumbo P , et al. (2014)
Cohort Size: 1

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 1428000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

Array SNP (Affymetrix CytoScan HD array)

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: Birdseed v2
Geographical Ancestry: Italy

17q12

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: 67
Female: 33
Unknown: -
CNV Size: 120120

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

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

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

17q12

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: 33
Female: 67
Unknown: -
CNV Size: 423307

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

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

17q12

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: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1702286

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

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

17q12

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 976668

Deletion: 3
Duplication: 3

Total CNV: 6
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

17q12

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: 144
Age Max: 144
Average: 144

Male: -
Female: 100
Unknown: -
CNV Size: 1860549

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

17q12

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: 1128477

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

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

17q12

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: 1459097

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

17q12

Description:

Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)

Diagnosis:

Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.

Reinthaler EM , et al. (2014)
Cohort Size: 281

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1367000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian

17q12

Description:

17-year-old male proband of Caucasian descent

Diagnosis:

Diagnoses of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and obsessive compulsve behavior (OCD); diagnostic tools N/A. Additional diagnosis of intellectual disability (ID; full scale IQ of 66 using Wechsler Intelligence Scale for Children-IV)

Roberts JL , et al. (2014)
Cohort Size: 1

Age Min: 204
Age Max: 204
Average: 204

Male: 100
Female: -
Unknown: -
CNV Size: 1887262

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

FISH

Platform: Ambry CMA 400K CGH + SNP array (300K aCGH probes, 100K SNP probes)
Software: BioDiscovery Nexus
Algorithm: -
Geographical Ancestry: Caucasian

17q12

Description:

38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006

Diagnosis:

Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development

Rasmussen M , et al. (2016)
Cohort Size: 38

Age Min: 2
Age Max: 648
Average: 229.38235294118

Male: 39
Female: 61
Unknown: -
CNV Size: 1400000

Deletion: 12
Duplication: 26

Total CNV: 38
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Denmark

17q12

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: 56
Female: 44
Unknown: -
CNV Size: 1680362

Deletion: 13
Duplication: 1

Total CNV: 14
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

17q12

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: 24
Age Max: 36
Average: 30

Male: 100
Female: -
Unknown: -
CNV Size: 1638000

Deletion: 1
Duplication: 1

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

17q12

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: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

17q12

Description:

Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.

Diagnosis:

27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).

Soorya L , et al. (2013)
Cohort Size: 32

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1433875

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Karyotyping, FISH, aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

17q12

Description:

Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)

Diagnosis:

All cases fulfilled DSM-V criteria for autism

Soueid J , et al. (2016)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: 50
Female: -
Unknown: 50
CNV Size: 120000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

17q12

Description:

Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Diagnosis:

Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Soueid J , et al. (2016)
Cohort Size: 35

Age Min: -
Age Max: -
Average: -

Male: 50
Female: -
Unknown: 50
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

17q12

Description:

Discovery cohort of Canadian individuals with ASD

Diagnosis:

ASD

Vaags AK , et al. (2012)
Cohort Size: 1158

Age Min: 42
Age Max: 199
Average: 120.5

Male: 100
Female: -
Unknown: -
CNV Size: 95674

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Software: -
Algorithm: -
Geographical Ancestry: Canadian

17q12

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: 199
Average: 120.5

Male: 100
Female: -
Unknown: -
CNV Size: 32952

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

17q12

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: 100
Female: -
Unknown: -
CNV Size: 2700000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

17q12

Description:

Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada

Diagnosis:

Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments

Tammimies K , et al. (2015)
Cohort Size: 258

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1807231

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada

17q12

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: 979000

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

17q12

Description:

ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases

Diagnosis:

ASD

Wenger TL , et al. (2016)
Cohort Size: 62

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 87719

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap 550 or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A

17q12

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: 82100

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

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

17q12

Description:

Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.

Diagnosis:

All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder

Wang J et al. (2020)
Cohort Size: 95

Age Min: 55
Age Max: 55
Average: 55

Male: 100
Female: -
Unknown: -
CNV Size: 1690205

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

Platform: Illumina HiSeq 2000
Software: Short Oligonucleotide Analysis Package (SOAP) v.2.21
Algorithm: -
Geographical Ancestry: Han Chinese

17q12

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: 1732499

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

WGS

Validation Method:

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

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

battaglia_13_DD/ID/ASD_discovery_cases-case40

Clinical Profile:

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

Cognitive Profile:

Moderate DD/ID

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

Age: 2 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30697393
CNV End: 32040195
CNV Size: 1342803
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

beunders_13_DD/ID/ASD_discovery_cases-case40

Clinical Profile:

Clinical profile: N/A

Cognitive Profile:

Cognitive profile: N/A

Beunders G , et al. (2013)
Primary Diagnosis: DD/ID and/or MCA

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 345925
CNV End: 2086753
CNV Size: 1740829
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_discovery_cases-caseSSC02460

Clinical Profile:

Case from SSC_phase1 cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 1365091
CNV End: 1539507
CNV Size: 174417
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_discovery_cases-caseSSC07095

Clinical Profile:

Case from SSC_phase1 cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 39255110
CNV End: 39255854
CNV Size: 745
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-case3-0080-000

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 39830068
CNV End: 39832324
CNV Size: 2257
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandt_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autism based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Birth/neonatal history: born at 36 weeks to 40 and 46 yr old parents via planned C-section due to prior maternal fibroid surgery; no reported abnormalities on prenatal ultrasound; no perinatal complications; birth weight 50th %ile. Devleopmental milestones: delayed milestones; first sat unsupported at 12 months, first crawled at 18 months, first walked at 24 months; first use of single words at 3 years; no reported regression or loss of skills. Language and communication evaluation: vocabulary of five words at age of 5 yrs.; significant impairment in receptive and expressive language domains; no capacity for joint attention or three-point gaze; typically pulled other's hands to desired objects; no development of oral-motor imitation skills. Behavioral/psychiatric evaluation: repetitive & compulsive-like behaviors (hyperventilating accompanied by loud stereotypic vocalizations, opening and closing of pop-up toy door, hand flapping while stomping feet); engagement in largely self-directed behavior during ADOS-G evaluation; several critical early social behaviors inconsistent or absent (responding to name, initiating shared attention); lack of pointing to reference objects or use of conventional gestures (nodding or shrugging); lack of normalized play, functional or pretend, with toys (interest in toys largely sensory in nature, e.g. mouthing toys); unusual sensory interests (rubbing mother's sock and examiner'shand). EEG: normal except for background slowing (administered while awake). Brain imaging: mildly enlarged ventricles on MRI. Other medical concerns & comorbidities: mild constipation. Dysmorphic features: bilateral parietal bossing, bushy eyebrows, thick eyelashes, bilateral epicanthal folds, apparent hypertelorism, posteriorly rotated ears, broad nasal bridge, thin vermillion of upper lip, small separated teeth, two cafe au lait macules on back. Growth parameters: height, 10-25th %ile; weight, 75th %ile; head circumference, 95th %ile. Family history: only child of non-consanguineous parents of Ashkenazi Jewish origin; no family history of intellectual disability, autism/ASD, or other psychiatric illness.

Cognitive Profile:

Global development delay. Performance of Mullen Scales of Early Learning ranged from 6-month-level to 15-month level, depedning on subtest. Adaptive behavior scores (determined by VABS-II) significantly below that of same-aged peers, but consistent with overall level of cognitive functioning.

Brandt T , et al. (2012)
Primary Diagnosis: Autism

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 694274
CNV End: 2128124
CNV Size: 1433851
Validation Description: FISH, array SNP (Affymetrix 6.0)
Primary Disorder Inheritence: -
CNV Inheritance: De novo, maternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

bremer_11_ASD_discovery_cases-case36

Clinical Profile:

Non-syndromic ASD, sporadic case

Cognitive Profile:

MR (IQ<70)

Bremer A , et al. (2011)
Primary Diagnosis: ASD

Age: 48

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 35350467
CNV End: 35459643
CNV Size: 109177
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

celestino-soper_11_ASD_discovery_cases-11335

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 323573
CNV End: 415644
CNV Size: 92072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11353

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 389599
CNV End: 2210588
CNV Size: 1820990
Validation Description: Solid phase hybridization (Illumina 1M SNP), qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11399

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 1645476
CNV End: 1645849
CNV Size: 374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case285

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case286

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case287

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case288

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case289

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case290

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case291

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case292

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case293

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case294

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case295

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case296

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case297

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case298

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case299

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case300

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case301

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case302

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case303

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case304

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case305

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case306

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case307

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case308

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case309

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case310

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case311

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case312

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case313

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case314

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case315

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case316

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case317

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case318

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case319

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case320

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case321

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case322

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case323

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case324

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case325

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case326

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case327

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: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case1140_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case13035_443

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case14052_890

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: 39249404
CNV End: 39304188
CNV Size: 54785
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14315_4320

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: 694163
CNV End: 2128871
CNV Size: 1434709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20053_1279001

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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20066_1318001

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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20089_1391001

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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20116_1557001

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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case2295_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case3431_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case4033_100

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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case4306_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case4406_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: 39387196
CNV End: 39420164
CNV Size: 32969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MED1, FBXL20

engchuan_15_ASD_discovery_cases-case4553_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case5056_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: 39202429
CNV End: 39322548
CNV Size: 120120
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL19, STAC2, FBXL20

engchuan_15_ASD_discovery_cases-case5227_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case6005_5

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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case6024_7

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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

engchuan_15_ASD_discovery_cases-case6242_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: 333773
CNV End: 698253
CNV Size: 364481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case8451_201

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 694641
CNV End: 797033
CNV Size: 102393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

gai_11_ASD_discovery_cases-AU1551302

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31436315
CNV End: 31889664
CNV Size: 453350
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: CCL3, CCL4, TBC1D3B, CCL3L3, CCL3L1, CCL4L1, CCL4L2, TBC1D3C, TBC1D3F, CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3H, TBC1D3C, TBC1D3F, TBC1D3G

gai_11_ASD_discovery_cases-AU1559302

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 28973892
CNV End: 29973811
CNV Size: 999920
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E

gai_11_ASD_discovery_cases-AU1559303

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 28984361
CNV End: 29996842
CNV Size: 1012482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E

george_11_DD_discovery_cases-case1

Clinical Profile:

Language and communication evaluation: normal langauge. Behavioral/psychiatric evaluation: attention deficit, hyperactivity, disruptive behavior; normal social reciprocity and mood. Other features: no renal tract abnormalities noted on ultrasound. Growth parameters: weight of 24.5 kg (75th %ile), height of 122 cm (50th %ile), head circumference of 53.5 cm (75th-90th %ile). Family history: younger male sibling with mild developmental delay (mild gross motor delay) and bilateral renal cystic disease (sibling carries 17q12 microdeletion); mother, who was adopted, has learning difficulties, but is able to read and write and has no behavioral issues; father has significant learning difficulties and is unable to read or write, but has no behavioral issues; paternal uncle with low normal intelligence and stuttering; paternal grandmother with learning difficulties.

Cognitive Profile:

Learning difficulties. General cognitive ability within low-average range (19th %ile) as measured by Full-scale IQ (Wechsler Intelligence Scale for Children-4th ed.)

George AM , et al. (2012)
Primary Diagnosis: Behavioral problems and learning difficulties

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: Both parents (learning difficulties)

Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
CNV Start: 727982
CNV End: 2128496
CNV Size: 1400515
Validation Description: -
Primary Disorder Inheritence: Both parents (learning difficulties)
CNV Inheritance: Maternal
Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si114

Clinical Profile:

ADOS score: 8. Vineland composite score: 96.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 1054952
CNV End: 1204952
CNV Size: 150001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

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: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si38

Clinical Profile:

ADOS score: 10. Vineland composite score: 70.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si54

Clinical Profile:

ADOS score: NA. Vineland composite score: NA

Cognitive Profile:

Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33602613
CNV End: 34690683
CNV Size: 1088071
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2

girirajan_11_ASD_discovery_cases-Si54

Clinical Profile:

ADOS score: NA. Vineland composite score: NA

Cognitive Profile:

Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33635497
CNV End: 34576480
CNV Size: 940984
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, ASIC2

girirajan_11_ASD_discovery_cases-Si82

Clinical Profile:

ADOS score: 4. Vineland composite score: 81.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si89

Clinical Profile:

ADOS score: 10. Vineland composite score: 60.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 32; Non-verbal IQ, 62.

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1432

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1433

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1434

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1435

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1436

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1437

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1438

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1439

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1440

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1441

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1442

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1443

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1444

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1445

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1446

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1447

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1448

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1449

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1450

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1451

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1452

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1453

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1454

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1455

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1456

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1457

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1458

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1459

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1460

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1461

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1462

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1463

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1464

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1465

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1466

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1467

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1468

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1469

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1470

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1471

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1472

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1473

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1474

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1475

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1476

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1477

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1478

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1479

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1480

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1481

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1482

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1483

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1484

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1485

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1486

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1487

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case24512

Clinical Profile:

Behavioral problems: anxiety. Hypotonia, muscle weakness. Seizures. Nondysmorphic. Growth parameters: normal height and weight, mild macrocephaly. Family history: not specified.

Cognitive Profile:

Moderate-to-severe ID

Girirajan S , et al. (2012)
Primary Diagnosis: Intellectual disability

Age: 13 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case27522

Clinical Profile:

Speech delay. Behavioral problems: ADHD, Tourette syndrome. Normal tone. Movement disorder. Nondysmorphic. Other features: osteochondroma on right femur. Growth parameters: height 90th %ile, OFC +1.0 SD. Family history: mother and twin brother with Tourette syndrome; hearing loss in father, post-infection.

Cognitive Profile:

Developmental delay; in special education

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

Age: 14 yrs. 8 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex for Tourette syndrome
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex for Tourette syndrome
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case28231

Clinical Profile:

Congenital anomalies: MRKH syndrome, polycystic kidneys. All other measures not specified.

Cognitive Profile:

NA

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

Age: 18 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case31576

Clinical Profile:

Motor delays. Hypotonia, unsteady gait, lack of coordination. Nondysmorphic. Congenital anomalies: cystic kidney disease, vesicoureteral reflux. Other features: vertical nystagmus. Growth parameters: height 30th %ile, OFC +1.0 SD. Family history: healthy parents.

Cognitive Profile:

NA

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

Age: 26 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case52609

Clinical Profile:

Cystic kidneys, absent bladder and small stomach; patient deceased

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-11002.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: 1983969
CNV End: 2142084
CNV Size: 158116
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-11234.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: 1365094
CNV End: 1537715
CNV Size: 172622
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-11353.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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-12242.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: 33638868
CNV End: 34638868
CNV Size: 1000001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2

girirajan_13a_ASD_discovery_cases-13085.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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase371

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase372

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase373

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase374

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase375

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase376

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase377

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase378

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase379

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase380

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase381

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase382

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase383

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_DD_discovery_cases-DDcase384

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: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-20008109910

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-21907108174

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-23204100689

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-25807108397

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 325376
CNV End: 389261
CNV Size: 63886
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-28208110205

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-29905103852

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 316263
CNV End: 389261
CNV Size: 72999
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-29908110268

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-38806106786

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1358130
CNV End: 1424429
CNV Size: 66300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-47306107043

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-5603100206

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-8203100466

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1344292
CNV End: 1432729
CNV Size: 88438
Validation Description: aCGH (Agilent hotspot 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-909110667

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-9605102926

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 325376
CNV End: 387331
CNV Size: 61956
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-9908109393

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

iourov_12_ASD/ID/EP_discovery_cases-case20

Clinical Profile:

Syndactyly, facial dysmorphisms

Cognitive Profile:

Mild developmental delay and cognitive delay

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 2 yrs. 4 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 194822
CNV End: 261110
CNV Size: 66289
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000028

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000783

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000912

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000973

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001063

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001230

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001653

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 728878
CNV End: 2142084
CNV Size: 1413207
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002203

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 39365569
CNV End: 39612092
CNV Size: 246524
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-233P, NEUROD2, MED1, CDK12, FBXL20

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002565

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 267696
CNV End: 2088293
CNV Size: 1820598
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002673

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694274
CNV End: 2088293
CNV Size: 1394020
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002712

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 33642695
CNV End: 34549211
CNV Size: 906517
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, LINC01989, CCL13, ASIC2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003791

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003904

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 33715517
CNV End: 34301601
CNV Size: 586085
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, LINC01989, ASIC2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003953

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2142084
CNV Size: 1447922
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004070

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004094

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 35360337
CNV End: 35411448
CNV Size: 51112
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004137

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 696512
CNV End: 2052828
CNV Size: 1356317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004138

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004188

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004238

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004279

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004355

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1837826
CNV End: 2103254
CNV Size: 265429
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004410

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 696512
CNV End: 2047169
CNV Size: 1350658
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004466

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004512

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004671

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004718

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004777

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 730597
CNV End: 2052828
CNV Size: 1322232
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004800

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004828

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004936

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004961

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005072

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005089

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005119

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005170

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005213

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 33670906
CNV End: 34596087
CNV Size: 925182
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005227

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 778891
CNV End: 2056793
CNV Size: 1277903
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005255

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005297

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005316

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kanduri_15_ASD_discovery_cases-case1831

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3

kanduri_15_ASD_discovery_cases-case1890

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 36194230
CNV End: 36223325
CNV Size: 29096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: LOC284100 (non-coding RNA, exonic)

kanduri_15_ASD_discovery_cases-case1966

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 34453522
CNV End: 34466631
CNV Size: 13110
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, CCL4(dist=20508),TBC1D3B(dist=26430)

kanduri_15_ASD_discovery_cases-case3063

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3

krumm_13_ASD_discovery_cases-case11196.p1

Clinical Profile:

ASD proband from SSC quad family 11196. SRS score of 80.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 112.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

krumm_13_ASD_discovery_cases-case11353.p1

Clinical Profile:

ASD proband from SSC quad family 11353. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 79.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 772005
CNV End: 1983940
CNV Size: 1211936
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_cases-case11459.p1

Clinical Profile:

ASD proband from SSC quad family 11459. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 80.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856805
CNV Size: 1744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15

krumm_15_ASD_discovery_cases-case11196.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: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

krumm_15_ASD_discovery_cases-case11234.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: 1365355
CNV End: 1519371
CNV Size: 154017
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11459.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: 35855062
CNV End: 35856224
CNV Size: 1163
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15

krumm_15_ASD_discovery_cases-case12057.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: 35265071
CNV End: 35442286
CNV Size: 177216
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13, SLFN5

krumm_15_ASD_discovery_cases-case12334.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: 35878527
CNV End: 35880305
CNV Size: 1779
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case12803.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: 35116858
CNV End: 35121902
CNV Size: 5045
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RAD51L3-RFFL, RAD51D, FNDC8

krumm_15_ASD_discovery_cases-case12950.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: 39160590
CNV End: 39165139
CNV Size: 4550
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13006.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: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

krumm_15_ASD_discovery_cases-case13085.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 721603
CNV End: 1983940
CNV Size: 1262338
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13620.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: 35258690
CNV End: 35265888
CNV Size: 7199
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13962.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: 153781
CNV End: 305929
CNV Size: 152149
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14098.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 159135
CNV End: 252462
CNV Size: 93328
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14229.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: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

krumm_15_ASD_discovery_cases-case14303.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: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

krumm_15_ASD_discovery_cases-case14477.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: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13

leppa_16_ASD_discovery_cases-AU1559302

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 33632981
CNV End: 34608981
CNV Size: 976001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2

leppa_16_ASD_discovery_cases-AU3727303

Clinical Profile:

SRS total score 93

Cognitive Profile:

Raven's non-verbal IQ N/A, PPVT 62

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 694641
CNV End: 2128865
CNV Size: 1434225
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11353.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 694163
CNV End: 2100765
CNV Size: 1406603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

li_18_ASD_discovery_cases-case6301

Clinical Profile:

Diagnosis of ASD made according to DSM-IV

Cognitive Profile:

-

Li SJ , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 134852
CNV End: 255646
CNV Size: 120795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

loirat_10_ASD_discovery_cases-patient1

Clinical Profile:

ADI-R evaluation (age of examination, 9.3 yrs.): social interaction score, 27; communication and language score, 14; restricted and repetitive behaviors score, 9; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behavior noted at 3 months; sitting position at 12 months; started to walk at 22 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 12 months. Developmental quotient (Brunet-Lezine-R scale): 19. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity and cysts, right pyelectasis, and left hypoplasia; moderate renal failure and mild cholestasis. Growth parameters: height, 130 cm (0 SD); weight, 26 kg (0 SD); head circumference, +2 SD.

Cognitive Profile:

Developmental delay/mental retardation.

Loirat C , et al. (2010)
Primary Diagnosis: Autism

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31543875
CNV End: 33371626
CNV Size: 1827751
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B

loirat_10_ASD_discovery_cases-patient2

Clinical Profile:

ADI-R evaluation (age of examination, 2.3 yrs.): social interaction score, 21; communication and language score, 10; restricted and repetitive behaviors score, 6; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behaviors noted at 2 months; sitting position at 10 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 8 months. Developmental quotient (Brunet-Lezine-R scale): 23. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical cysts. Growth parameters: height, 101 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.

Cognitive Profile:

Developmental delay/mental retardation.

Loirat C , et al. (2010)
Primary Diagnosis: Autism

Age: 3.5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31889664
CNV End: 33386049
CNV Size: 1496385
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B

loirat_10_ASD_discovery_cases-patient3

Clinical Profile:

ADI-R evaluation (age of examination, 3.4 yrs.): social interaction score, 26; communication and language score, 13; restricted and repetitive behaviors score, 4; onset before age 3 score, 5. Developmental milestones: lack of contact noted at 6 months; stereotyped behaviors noted at 18 months; sitting position at 9 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 3 months. Developmental quotient (Brunet-Lezine-R scale): 26. Brain imaging: not documented. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity. Growth parameters: height, 103 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.

Cognitive Profile:

Developmental delay/mental retardation.

Loirat C , et al. (2010)
Primary Diagnosis: Autism

Age: 3.8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31550027
CNV End: 33399810
CNV Size: 1849783
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, CCL3L1, CCL3L3, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B

marshall_08_ASD_discovery_cases-SK0284-003

Clinical Profile:

NA

Cognitive Profile:

NA

Marshall CR , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 33634168
CNV End: 34609568
CNV Size: 975401
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2

moreno-de-luca_10_ASD_discovery_cases-case1

Clinical Profile:

Depression, migraines

Cognitive Profile:

Normal intellect

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Depression

Age: 19

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case2

Clinical Profile:

Deficits in coordination and motor skills, language impairment, aggression, unusual phobias, hyperactivity, short attention span, extremely selective diet

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case3

Clinical Profile:

Deficits in coordination and motor skills, language impairment, anxiety, occasional unmotivated giggling, extremely selective diet

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case4

Clinical Profile:

Deficits in coordination and motor skills, language impairment, mood changes, OCD

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case5

Clinical Profile:

Anxiety, bipolar disorder

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Bipolar disorder

Age: 37

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case6

Clinical Profile:

Deficits in coordination and motor skills, language impairment, irritability, response to pain

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 1 yr, 9 mo

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case7

Clinical Profile:

Deficits in coordination and motor skills, language impairment

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Neurocognitive deficits

Age: 1 yr, 10 mo

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case8

Clinical Profile:

Deficits in coordination and motor skills, language impairment, anxiety, self-injurious behaviors, pica, short attention span

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_discovery_cases-case9

Clinical Profile:

Deficits in coordination and motor skills, anxiety, mood changes

Cognitive Profile:

Intellectual impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: 22

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_replication_cases-case1

Clinical Profile:

NA

Cognitive Profile:

NA

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_ASD_replication_cases-case2

Clinical Profile:

NA

Cognitive Profile:

Neurocognitive impairment

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: ASD/neurocognitive impairment

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_SCZ_replication_cases-case1

Clinical Profile:

NA

Cognitive Profile:

NA

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Schizophrenia

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_SCZ_replication_cases-case2

Clinical Profile:

NA

Cognitive Profile:

NA

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Schizophrenia

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_SCZ_replication_cases-case3

Clinical Profile:

NA

Cognitive Profile:

NA

Moreno-De-Luca D , et al. (2010)
Primary Diagnosis: Schizophrenia

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

moreno-de-luca_10_SCZ_replication_cases-case4