Copy Number Variants / 2q11.2

2q11.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
301809
Range
97739057-98115695
Associated Human Genes
IL1R2, NPAS2
Associated Mouse Models
-
Autism Reports
21
Populations
29 (23 case / 6 control)
Individuals
149 (92 case / 57 control)
Summary

Summary statement in development

Reports related to 2q11.2 (21 Reports)
# Type Title Author, Year
1 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
2 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
3 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
4 Minor Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Chung BH , et al. (2011)
5 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)
6 Minor 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)
7 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
8 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
9 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
10 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
11 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
12 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)
13 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
14 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
15 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
16 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
17 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
18 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)
19 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
20 Minor Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
21 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
Show all Case Details Show all Cohort Details

2q11.2

Description:

Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013

Diagnosis:

Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype

Al-Qattan SM , et al. (2014)
Cohort Size: 584

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 294516

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia

2q11.2

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: 100
Female: -
Unknown: -
CNV Size: 2758

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

2q11.2

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: 67
Female: 33
Unknown: -
CNV Size: 7390

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

2q11.2

Description:

Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)

Diagnosis:

ASD (ADI-R and ADOS, Module 3)

Chung BH , et al. (2011)
Cohort Size: 1

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 20878

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.2.1, Birdseed v.2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian

2q11.2

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: 950000

Deletion: 6
Duplication: 4

Total CNV: 10
Discovery Method:

aCGH

Validation Method:

None

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

2q11.2

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: 2015254

Deletion: 4
Duplication: 13

Total CNV: 17
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

2q11.2

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: 40
Age Max: 40
Average: 40

Male: 100
Female: -
Unknown: -
CNV Size: 927965

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

2q11.2

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: 935911

Deletion: 2
Duplication: 0

Total CNV: 2
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

2q11.2

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: 935911

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

N/A

Validation Method:

None

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

2q11.2

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: 1997995

Deletion: 3
Duplication: 8

Total CNV: 11
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

2q11.2

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: 63
Female: 38
Unknown: -
CNV Size: 83099

Deletion: 0
Duplication: 4

Total CNV: 4
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

2q11.2

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: 143385

Deletion: 1
Duplication: 5

Total CNV: 6
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

2q11.2

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: 576
Age Max: 576
Average: 576

Male: 100
Female: -
Unknown: -
CNV Size: 1015583

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

2q11.2

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: 33
Female: 67
Unknown: -
CNV Size: 90411

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

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

2q11.2

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: -
Female: 100
Unknown: -
CNV Size: 293432

Deletion: 0
Duplication: 1

Total CNV: 1
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

2q11.2

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: -
Female: 100
Unknown: -
CNV Size: 84765

Deletion: 0
Duplication: 1

Total CNV: 1
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

2q11.2

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: 50
Female: 50
Unknown: -
CNV Size: 780104

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

qPCR

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

2q11.2

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: 80
Female: 20
Unknown: -
CNV Size: 122706

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

WES

Validation Method:

None

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

2q11.2

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: 201138

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

2q11.2

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: 80
Female: 20
Unknown: -
CNV Size: 379342

Deletion: 13
Duplication: 5

Total CNV: 18
Discovery Method:

Solid phase hybridization

Validation Method:

-

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&

2q11.2

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: -
Female: -
Unknown: 100
CNV Size: 129000

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

2q11.2

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: -
Female: -
Unknown: 100
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

2q11.2

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: 50604

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Case Details Show all Cohort Details

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0055

Clinical Profile:

Coloboma, bilateral microphthalmia and microcornea, right facial nerve palsy, dysphagia, conductive hearing loss, hemivertebra, scoliosis, and bifid spine (CHARGE-like). Non-consanguineous parents.

Cognitive Profile:

-

Al-Qattan SM , et al. (2014)
Primary Diagnosis: MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 97065382
CNV End: 97285797
CNV Size: 220416
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

brandler_18_ASD_replication_cases-case2-1561-003

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: 99421919
CNV End: 99429308
CNV Size: 7390
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11098

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: 97513266
CNV End: 97516024
CNV Size: 2759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
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: 101698006
CNV End: 101698472
CNV Size: 467
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

chung_11_ASD_discovery_cases-proband

Clinical Profile:

Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.

Cognitive Profile:

WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)

Chung BH , et al. (2011)
Primary Diagnosis: ASD

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 97524837
CNV End: 97545714
CNV Size: 20878
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

coe_14_ASD/DD/ID_discovery_cases-case541

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case542

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case543

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case544

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case545

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case546

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case547

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case548

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case549

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

coe_14_ASD/DD/ID_discovery_cases-case550

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: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

engchuan_15_ASD_discovery_cases-case14056_970

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: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_cases-case17009_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: 101266584
CNV End: 101344441
CNV Size: 77858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD89, MIR5696, CNOT11, RNF149

engchuan_15_ASD_discovery_cases-case20000_1010002

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_cases-case2288_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: 97861227
CNV End: 98070485
CNV Size: 209259
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-96P, TMEM131

engchuan_15_ASD_discovery_cases-case3309_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: 97200092
CNV End: 97659389
CNV Size: 459298
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, UBTFL6, COX5B, ACTR1B, ANKRD36, ANKRD36B

engchuan_15_ASD_discovery_cases-case3385_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: 97087398
CNV End: 97267355
CNV Size: 179958
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_cases-case3418_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: 99221740
CNV End: 99299884
CNV Size: 78145
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_cases-case3484_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: 97117673
CNV End: 97267355
CNV Size: 149683
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3571_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: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_cases-case3616_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: 97489619
CNV End: 97658891
CNV Size: 169273
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

engchuan_15_ASD_discovery_cases-case4236_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: 98377951
CNV End: 100393206
CNV Size: 2015256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COA5, YWHAQP5, RNU4-84P, RNU7-46P, C2orf15, CNGA3, UNC50, LIPT1, MITD1, MRPL30, LYG2, LYG1, TXNDC9, LINC01104, LONRF2, MGAT4A, KIAA1211L, TSGA10, EIF5B, REV1, CHST10, INPP4A, AFF3

engchuan_15_ASD_discovery_cases-case4548_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: 97085273
CNV End: 97499218
CNV Size: 413946
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B

engchuan_15_ASD_discovery_cases-case5000_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: 97068081
CNV End: 97267355
CNV Size: 199275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_cases-case5244_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: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_cases-case6312_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: 99221740
CNV End: 99300136
CNV Size: 78397
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

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: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_cases-case8651_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: 97073320
CNV End: 97267355
CNV Size: 194036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

girirajan_12_ASD/DD/ID_discovery_cases-case51723

Clinical Profile:

Speech delay. Normal tone. Frontal lobe atrophy, hearing loss. Dysmorphic features: micrognathia, low-set ears, blepharophimosis. Congenital anomalies: cryptorchidism. Other features: strabismus, retinopathy, astigmatism. Growth parameters: weight 97th %ile, OFC 97th %ile. Family history: healthy parents.

Cognitive Profile:

NA

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

Age: 3 yrs. 4 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 96077682
CNV End: 97005658
CNV Size: 927977
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

girirajan_13a_ASD_discovery_cases-12550.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: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

girirajan_13a_ASD_discovery_cases-14043.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: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

girirajan_13a_DD_discovery_cases-DDcase100

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: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

girirajan_13a_DD_discovery_cases-DDcase99

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: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000835

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95879602
CNV End: 97029672
CNV Size: 1150071
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 96100812
CNV End: 97267355
CNV Size: 1166544
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: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002200

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 101080018
CNV End: 101646523
CNV Size: 566506
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: SNORD89, MIR5696, TBC1D8-AS1, CNOT11, RNF149, CREG2, LINC01870, TBC1D8, RFX8

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002259

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95880668
CNV End: 97131646
CNV Size: 1250979
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002743

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 97634165
CNV End: 97841153
CNV Size: 206989
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: UBTFL6, COX5B, ACTR1B, RNU4-8P, HMGN1P36, C2orf92, ZAP70, TMEM131

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002785

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95806265
CNV End: 97267355
CNV Size: 1461091
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, LINC00342, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004015

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95810453
CNV End: 97024341
CNV Size: 1213889
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, LINC00342, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004706

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95879602
CNV End: 97267355
CNV Size: 1387754
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005076

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 98787057
CNV End: 100785053
CNV Size: 1997997
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: RNU7-46P, C2orf15, HMGN2P22, LINC01849, NANOGNBP1, LINC01868, LIPT1, MITD1, MRPL30, LYG2, LYG1, TXNDC9, LINC01104, LONRF2, NMS, PDCL3, KIAA1211L, TSGA10, EIF5B, REV1, CHST10, AFF3

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005087

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 95916534
CNV End: 97024341
CNV Size: 1107808
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: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005242

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 96100612
CNV End: 97267355
CNV Size: 1166744
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: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36

krumm_13_ASD_discovery_cases-case11045.p1

Clinical Profile:

ASD proband from SSC quad family 11045. SRS score of 60.

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: 101790719
CNV End: 101799643
CNV Size: 8925
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_cases-case11484.p1

Clinical Profile:

ASD proband from SSC quad family 11484. SRS score of 76.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 106.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 97646086
CNV End: 97659477
CNV Size: 13392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COX5B, ACTR1B

krumm_13_ASD_discovery_cases-case13507.p1

Clinical Profile:

ASD proband from SSC quad family 13507. SRS score of 46.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 101.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 97576378
CNV End: 97659477
CNV Size: 83100
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

krumm_13_ASD_discovery_cases-case13795.p1

Clinical Profile:

ASD proband from SSC quad family 13795. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 34.

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 99284392
CNV End: 99292640
CNV Size: 8249
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11045.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: 101790719
CNV End: 101799643
CNV Size: 8925
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11099.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: 97584943
CNV End: 97659003
CNV Size: 74061
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

krumm_15_ASD_discovery_cases-case11765.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: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_cases-case12853.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: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_cases-case13507.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: 97555059
CNV End: 97660646
CNV Size: 105588
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

krumm_15_ASD_discovery_cases-case13968.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: 98093092
CNV End: 98236477
CNV Size: 143386
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ATP5F1BP1, VWA3B

levy_11_ASD_discovery_cases-11045.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: 101759366
CNV End: 101812346
CNV Size: 52981
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11765.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 99217230
CNV End: 99307640
CNV Size: 90411
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

pinto_10_ASD_discovery_cases-case5000_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 97068081
CNV End: 97267355
CNV Size: 199275
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

pinto_14_ASD_discovery_cases2-case20000_1010002

Clinical Profile:

Clinical profile: N/A.

Cognitive Profile:

Cognitive profile: N/A.

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

poultney_13_ASD_discovery_cases-case00HI1465A

Clinical Profile:

ASD case from AGRE (AGRE ID AU032706; NDAR ID NDAR_INVTU259PHM)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 97084167
CNV End: 97118525
CNV Size: 34359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

poultney_13_ASD_discovery_cases-case04HI3272A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1158302; NDAR ID NDAR_INVHN818LB9)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 97536300
CNV End: 97659005
CNV Size: 122706
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

poultney_13_ASD_discovery_cases-case98HI0098B

Clinical Profile:

ASD case from AGRE (AGRE ID AU015703; NDAR ID N/A)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 100566501
CNV End: 100576498
CNV Size: 9998
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_cases-case99HI1043A

Clinical Profile:

ASD case from AGRE (AGRE ID AU006305; NDAR ID NDAR_INVRH216ZC3)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 100566501
CNV End: 100576498
CNV Size: 9998
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -

prasad_12_ASD_discovery_cases-case47173L

Clinical Profile:

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

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 99091635
CNV End: 99871738
CNV Size: 780104
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: MRPL30, LYG2, LIPT1, AFF3, MITD1, TXNDC9, TSGA10, C2orf15, REV1, EIF5B, LYG1

prasad_12_ASD_discovery_cases-case86605L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 99109302
CNV End: 99165206
CNV Size: 55905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: TSGA10, C2orf15, MRPL30, MITD1, LIPT1

sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: CBLH

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 97160375
CNV End: 97267355
CNV Size: 106981
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-125

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: N/A.

Cognitive Profile:

Developmental delay: N/A. Intellectual disability: N/A.

Sajan SA , et al. (2013)
Primary Diagnosis: ACC

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 98099401
CNV End: 98222904
CNV Size: 123504
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP5F1BP1, VWA3B

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-375

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: CBLH-PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LYG2, LYG1

sanders_11_ASD_discovery_cases-11004.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 15.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11111.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 97194096
CNV End: 97215530
CNV Size: 21435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11134.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 98957008
CNV End: 99216756
CNV Size: 259749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: C2orf15, LIPT1, MITD1, MRPL30, TSGA10

sanders_11_ASD_discovery_cases-11252.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97085273
CNV End: 97267355
CNV Size: 182083
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

sanders_11_ASD_discovery_cases-11258.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 14.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97215530
CNV Size: 21435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11378.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11484.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97489619
CNV End: 97657198
CNV Size: 167580
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

sanders_11_ASD_discovery_cases-11526.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11657.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 100179786
CNV End: 100213886
CNV Size: 34101
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11679.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 102045710
CNV End: 102054606
CNV Size: 8897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11765.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: LYG2, LYG1

sanders_11_ASD_discovery_cases-11917.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97179363
CNV End: 97513270
CNV Size: 333908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, ANKRD36, ANKRD36B

sanders_11_ASD_discovery_cases-11981.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100

Sanders SJ , et al. (2011)
Primary Diagnosis: Aspergers

Age: 6.6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97861227
CNV End: 98070485
CNV Size: 209259
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU7-96P, TMEM131

sanders_11_ASD_discovery_cases-12158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 97194096
CNV End: 97205577
CNV Size: 11482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12785.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 97073320
CNV End: 97499231
CNV Size: 425912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B

sanders_11_ASD_discovery_cases-12828.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 97044562
CNV End: 97267355
CNV Size: 222794
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

sanders_11_ASD_discovery_cases-12853.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 99221740
CNV End: 99271994
CNV Size: 50255
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13152.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 97348020
CNV End: 97359885
CNV Size: 11866
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: IGKV3OR2-5, IGKV1OR2-6

soueid_16_ASD_discovery_cases-caseSAI36

Clinical Profile:

Case fulfilled DSM-V criteria for autism; no other information available

Cognitive Profile:

-

Soueid J , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97307772
CNV End: 97422164
CNV Size: 114393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11

yin_16_ASD_discovery_cases-case74

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 98639438
CNV End: 98690041
CNV Size: 50604
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kushima_18_SCZ_discovery_cases-caseSCZ1051

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include delusions, hallucinations, agitated and violent behavior, negative symptoms). Brain imaging: hippocampal atrophy on brain CT. Family history: positive for intellectual disability (ID).

Cognitive Profile:

Intellectual disability (IQ < 70)

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia, ID

Age: 48 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Not simplex
CNV Start: 96063558
CNV End: 97079140
CNV Size: 1015583
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

brandler_18_ASD_discovery_controls-controlREACH000340

Clinical Profile:

Control from REACH cohort

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 96455564
CNV End: 96574776
CNV Size: 119213
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NEURL3, ARID5A

brandler_18_ASD_discovery_controls-controlSSC05183

Clinical Profile:

Control from SSC cohort

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99342009
CNV End: 99348436
CNV Size: 6428
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-control110036015501_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97087398
CNV End: 97585795
CNV Size: 498398
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B

engchuan_15_ASD_discovery_controls-controlB140638_1007853950

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97073320
CNV End: 97492322
CNV Size: 419003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlB253888_1007853986

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97489619
CNV End: 97659389
CNV Size: 169771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

engchuan_15_ASD_discovery_controls-controlB285779_1007874679

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlB347545_0067942603

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlB524961_1007872292

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97051608
CNV End: 97585795
CNV Size: 534188
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B

engchuan_15_ASD_discovery_controls-controlB536568_1007854032

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97073320
CNV End: 97492322
CNV Size: 419003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlB613109_1007875803

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 100070024
CNV End: 100144847
CNV Size: 74824
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB675310_1007874657

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_controls-controlB747096_1007854180

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99221740
CNV End: 99302092
CNV Size: 80353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_controls-controlB757128_1007874832

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97984887
CNV End: 98551240
CNV Size: 566354
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP5F1BP1, CNGA3, TMEM131, VWA3B, INPP4A

engchuan_15_ASD_discovery_controls-controlB809518_0057061032

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97085273
CNV End: 97492048
CNV Size: 406776
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlHABC_900201_900201

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97489619
CNV End: 97659389
CNV Size: 169771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

engchuan_15_ASD_discovery_controls-controlHABC_900250_900250

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97117673
CNV End: 97267355
CNV Size: 149683
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900943_900943

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97086560
CNV End: 97492322
CNV Size: 405763
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlHABC_901132_901132

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97081697
CNV End: 97492322
CNV Size: 410626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlHABC_901140_901140

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97081697
CNV End: 97492322
CNV Size: 410626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36

engchuan_15_ASD_discovery_controls-controlHABC_901223_901223

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

engchuan_15_ASD_discovery_controls-controlHABC_901266_901266

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97085273
CNV End: 97267355
CNV Size: 182083
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

girirajan_13b_ASD_discovery_controls-10208109404

Clinical Profile:

Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 95693087
CNV End: 96071808
CNV Size: 378722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, GPAT2P1, GPAT2, LINC00342, ANKRD36C

girirajan_13b_ASD_discovery_controls-2105102564

Clinical Profile:

Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 96711139
CNV End: 96764130
CNV Size: 52992
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CNNM4, LMAN2L

krumm_13_ASD_discovery_controls-control11484.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11484. SRS score of 43.

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 97647066
CNV End: 97659477
CNV Size: 12412
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COX5B, ACTR1B

krumm_13_ASD_discovery_controls-control13166.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13166. SRS score of 39.

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 98250317
CNV End: 98256174
CNV Size: 5858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_controls-control13507.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13507. SRS score of 37.

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 97576378
CNV End: 97658316
CNV Size: 81939
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

krumm_13_ASD_discovery_controls-control13508.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13508. SRS score of 41.

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_controls-control11765.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_controls-control12091.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97576378
CNV End: 97659003
CNV Size: 82626
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

krumm_15_ASD_discovery_controls-control12853.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_controls-control13508.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1

krumm_15_ASD_discovery_controls-control13531.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97584943
CNV End: 97659477
CNV Size: 74535
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

levy_11_ASD_discovery_controls-11765.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 99217230
CNV End: 99307640
CNV Size: 90411
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1

poultney_13_ASD_discovery_controls-control04C28851A

Clinical Profile:

NIMH Control (NIMH ID 46341)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97513180
CNV End: 97560860
CNV Size: 47681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_controls-control04C31069A

Clinical Profile:

NIMH Control (NIMH ID 68756)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97888052
CNV End: 98312351
CNV Size: 424300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-96P, ATP5F1BP1, TMEM131, VWA3B

poultney_13_ASD_discovery_controls-control04C32509B

Clinical Profile:

NIMH Control (NIMH ID 73661)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97083946
CNV End: 97118525
CNV Size: 34580
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

poultney_13_ASD_discovery_controls-control04C37424A

Clinical Profile:

NIMH Control (NIMH ID 98134)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97084167
CNV End: 97118525
CNV Size: 34359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

poultney_13_ASD_discovery_controls-control05C38812A

Clinical Profile:

NIMH Control (NIMH ID 76987)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 98093091
CNV End: 98194494
CNV Size: 101404
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_controls-control05C44633

Clinical Profile:

NIMH Control (NIMH ID 59719)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97551452
CNV End: 97659005
CNV Size: 107554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

sanders_11_ASD_discovery_controls-11032.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 3.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97194096
CNV End: 97211854
CNV Size: 17759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11073.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97194096
CNV End: 97211854
CNV Size: 17759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11124.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 13.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 96006253
CNV End: 96035209
CNV Size: 28957
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: FAHD2CP, GPAT2

sanders_11_ASD_discovery_controls-11252.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97086560
CNV End: 97499231
CNV Size: 412672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B

sanders_11_ASD_discovery_controls-11330.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97073320
CNV End: 97267355
CNV Size: 194036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36

sanders_11_ASD_discovery_controls-11512.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97227072
CNV Size: 109400
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11679.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 102045710
CNV End: 102054606
CNV Size: 8897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11765.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: LYG2, LYG1

sanders_11_ASD_discovery_controls-11917.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97208827
CNV End: 97391818
CNV Size: 182991
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: NCBI36
Gene Content: -

sanders_11_ASD_discovery_controls-11948.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97205577
CNV Size: 87905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11990.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 13.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97194486
CNV Size: 76814
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12091.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97489619
CNV End: 97658920
CNV Size: 169302
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B

sanders_11_ASD_discovery_controls-12701.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97086560
CNV End: 97267355
CNV Size: 180796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36

sanders_11_ASD_discovery_controls-12851.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 97179363
CNV End: 97585795
CNV Size: 406433
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, ANKRD36, ANKRD36B

sanders_11_ASD_discovery_controls-12851.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 96065361
CNV End: 96911924
CNV Size: 846564
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C

sanders_11_ASD_discovery_controls-12853.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 99216756
CNV End: 99302081
CNV Size: 85326
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: LYG2, LYG1

sanders_11_ASD_discovery_controls-13166.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 98245634
CNV End: 98270203
CNV Size: 24570
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

soueid_16_ASD_discovery_controls-control7

Clinical Profile:

-

Cognitive Profile:

-

Soueid J , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 97307772
CNV End: 97422164
CNV Size: 114393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11
Genes associated with 2q11.2(0 Models)
IL1R2 2  /  6 Rare Single Gene Mutation
Score
3
NPAS2 1  /  4 Genetic Association
Score
3
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