Copy Number Variants / 16p12.1

16p12.1

Case population data
Control population data
Type
Deletion-Duplication
Average Length
295346
Range
21901307-22703862
Associated Human Genes
-
Associated Mouse Models
-
Autism Reports
20
Populations
27 (21 case / 6 control)
Individuals
237 (179 case / 58 control)
Summary

Summary statement in development

Reports related to 16p12.1 (20 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
2 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
3 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
4 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
5 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)
6 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
7 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)
8 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)
9 Major Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
10 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
11 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
12 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
13 Minor 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)
14 Minor Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
15 Major The clinical significance of small copy number variants in neurodevelopmental disorders. Asadollahi R , 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 Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
19 Major Genome-wide characteristics of de novo mutations in autism. Yuen RK , et al. (2016)
20 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

16p12.1

Description:

Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb

Diagnosis:

Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies

Asadollahi R , et al. (2014)
Cohort Size: 714

Age Min: 48
Age Max: 48
Average: 48

Male: -
Female: 100
Unknown: -
CNV Size: 4000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

MLPA

Platform: Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.0.1
Algorithm: HMM
Geographical Ancestry: Predominantly European

16p12.1

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: 315

Deletion: 1
Duplication: 0

Total CNV: 1
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: -

16p12.1

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 282541

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

16p12.1

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 562708

Deletion: 14
Duplication: 1

Total CNV: 15
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 74
Female: 21
Unknown: 5
CNV Size: 772930

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

aCGH (Nimblegen 3x720K or Agilent 2x400K)

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

16p12.1

Description:

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

Diagnosis:

Developmental delay with or without congenital malformations

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

Age Min: -
Age Max: -
Average: -

Male: 3
Female: -
Unknown: 97
CNV Size: 490000

Deletion: 56
Duplication: 16

Total CNV: 72
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 107511

Deletion: 7
Duplication: 0

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

None

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 808273

Deletion: 17
Duplication: 4

Total CNV: 21
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

16p12.1

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 159841

Deletion: 1
Duplication: 2

Total CNV: 3
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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: 468
Age Max: 600
Average: 552

Male: 67
Female: 33
Unknown: -
CNV Size: 499957

Deletion: 0
Duplication: 1

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: 468
Age Max: 600
Average: 552

Male: 67
Female: 33
Unknown: -
CNV Size: 507294

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

N/A

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

16p12.1

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 57
Female: 43
Unknown: -
CNV Size: 491796

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

-

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

16p12.1

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 802555

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 67700

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 562709

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

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

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

16p12.1

Description:

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

Diagnosis:

Cases classified according to ADOS and ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 496394

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 62375

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 476469

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None (not tested or failure to confirm by qPCR)

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

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 71
Female: 29
Unknown: -
CNV Size: 486519

Deletion: 17
Duplication: 4

Total CNV: 21
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&

16p12.1

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 456000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

16p12.1

Description:

Cases from unrelated trio families from a cohort of Canadian ASD families

Diagnosis:

Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation

Yuen RK , et al. (2016)
Cohort Size: 200

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 11979

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

N/A

Validation Method:

qPCR, Sanger sequencing

Platform: High-resolution microarray platform
Software: Segseq, ERDS
Algorithm: -
Geographical Ancestry: Canada
Show all Case Details Show all Cohort Details

asadollahi_14_NDD_discovery_cases-case60984

Clinical Profile:

Developmental delay, growth hormone deficiency, celiac disease, hypoplastic left kidney

Cognitive Profile:

-

Asadollahi R , et al. (2014)
Primary Diagnosis: Developmental delay

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 24874320
CNV End: 24878290
CNV Size: 3971
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
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: 24729556
CNV End: 24729871
CNV Size: 316
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

davis_09_ASD_discovery_cases-AU026803

Clinical Profile:

Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).

Cognitive Profile:

-

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22328822
CNV End: 22611363
CNV Size: 282541
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

engchuan_15_ASD_discovery_cases-case14071_1240

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: 21869594
CNV End: 22432302
CNV Size: 562709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

engchuan_15_ASD_discovery_cases-case14315_4320

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22610469
CNV End: 22698442
CNV Size: 87974
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14325_4390

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: 22634371
CNV End: 22698442
CNV Size: 64072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14335_4490

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: 21937801
CNV End: 22424490
CNV Size: 486690
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

engchuan_15_ASD_discovery_cases-case16081_1571071001

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: 22634371
CNV End: 22698442
CNV Size: 64072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case18108_302

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: 22600609
CNV End: 22703259
CNV Size: 102651
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case21003_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: 22600609
CNV End: 22703259
CNV Size: 102651
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3174_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: 21935909
CNV End: 22424490
CNV Size: 488582
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

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: 22552697
CNV End: 22703259
CNV Size: 150563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3601_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: 22610469
CNV End: 22698442
CNV Size: 87974
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5366_5

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6043_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: 22611476
CNV End: 22698442
CNV Size: 86967
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6261_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: 21935909
CNV End: 22412377
CNV Size: 476469
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

engchuan_15_ASD_discovery_cases-case8491_202

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: 22614315
CNV End: 22698442
CNV Size: 84128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case8514_202

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: 21937801
CNV End: 22432302
CNV Size: 494502
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_11_ASD_discovery_cases-Si163

Clinical Profile:

ADOS score: 7. Vineland composite score: 63.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si165

Clinical Profile:

ADOS score: 8. Vineland composite score: 76.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 98; Non-verbal IQ, 127.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22619299
CNV End: 22704589
CNV Size: 85291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si172

Clinical Profile:

ADOS score: 9. Vineland composite score: 84.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si175

Clinical Profile:

ADOS score: 5. Vineland composite score: 72.

Cognitive Profile:

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

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si19

Clinical Profile:

ADOS score: 6. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si2

Clinical Profile:

ADOS score: 8. Vineland composite score: 79.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22619299
CNV End: 22703361
CNV Size: 84063
Validation Description: aCGH (Nimblegen 3x720K or Agilent 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si224

Clinical Profile:

ADOS score: 10. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22619795
CNV End: 22686243
CNV Size: 66449
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si225

Clinical Profile:

ADOS score: 8. Vineland composite score: 69.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22703361
CNV Size: 157847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si236

Clinical Profile:

ADOS score: 7. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si237

Clinical Profile:

ADOS score: 6. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si247

Clinical Profile:

ADOS score: 6. Vineland composite score: 57.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22103465
CNV End: 22348814
CNV Size: 245350
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SDR42E2, POLR3E, VWA3A, EEF2K, CDR2

girirajan_11_ASD_discovery_cases-Si254

Clinical Profile:

ADOS score: 6. Vineland composite score: 54.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si296

Clinical Profile:

ADOS score: NA. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 141; Verbal IQ, 143; Non-verbal IQ, 132.

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

Age: 18

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si306

Clinical Profile:

ADOS score: 6. Vineland composite score: 59.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 26; Non-verbal IQ, 36.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22686243
CNV Size: 140729
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si318

Clinical Profile:

ADOS score: 7. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22703361
CNV Size: 157847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si346

Clinical Profile:

ADOS score: 10. Vineland composite score: 78.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si61

Clinical Profile:

ADOS score: 6. Vineland composite score: 67.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si66

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

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

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22545515
CNV End: 22693152
CNV Size: 147638
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1023

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1024

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1025

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1026

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1027

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1028

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1029

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1030

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1031

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1032

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1033

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1034

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1035

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1036

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1037

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1038

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1039

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1040

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1041

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1042

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1043

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1044

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1045

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1046

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1047

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1048

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1049

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1050

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1051

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1052

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1053

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1054

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1055

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1056

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1057

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1058

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1059

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1060

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1061

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1062

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1063

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1064

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1065

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1066

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1067

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1068

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1069

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1070

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1071

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1072

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1073

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1074

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1075

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1076

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1077

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1078

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1079

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1080

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1081

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1082

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1083

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1084

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1085

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case1086

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case24781

Clinical Profile:

NA

Cognitive Profile:

Developmental delay

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case30323

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case31898

Clinical Profile:

Dysmorphic features, seizure disorder

Cognitive Profile:

Developmental delay

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case34937

Clinical Profile:

Trisomy 21.

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case39259

Clinical Profile:

Autistic disorder

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case42977

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case43670

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_cases-case52882

Clinical Profile:

Unbalanced translocation: inherited a supernumerary chromosome made up of 9p, 9cen, 15p - mom is balanced carrier

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_13b_ASD_discovery_cases-1709110692

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-21908109957

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-24609111458

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-3007107649

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-8905102822

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22686243
CNV Size: 100603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-909110667

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-9106105625

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22619299
CNV End: 22693152
CNV Size: 73854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002211

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21973700
CNV End: 22396610
CNV Size: 422911
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: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003783

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004048

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004147

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22358401
CNV Size: 532231
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004158

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21940058
CNV End: 22396610
CNV Size: 456553
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: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004174

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004181

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004475

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004665

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004722

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21794978
CNV End: 22396610
CNV Size: 601633
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: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004950

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21825971
CNV End: 22396751
CNV Size: 570781
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005165

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22634444
CNV Size: 808274
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005252

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22055774
CNV End: 22634444
CNV Size: 578671
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: SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005266

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005277

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21826171
CNV End: 22396610
CNV Size: 570440
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: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005423

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22755932
CNV End: 23546240
CNV Size: 790309
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: SUB1P4, HS3ST2, COG7, RN7SKP23, GGA2, EARS2, SCNN1G, SCNN1B, USP31

krumm_15_ASD_discovery_cases-case11458.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: 24875626
CNV End: 24911533
CNV Size: 35908
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case12302.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: 25217045
CNV End: 25253037
CNV Size: 35993
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: AQP8, ZKSCAN2

krumm_15_ASD_discovery_cases-case14017.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: 27066995
CNV End: 27226836
CNV Size: 159842
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: C16orf82, EEF1A1P38, LINC02129, KDM8, NSMCE1

levy_11_ASD_discovery_cases-11030.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: 22739140
CNV End: 22834559
CNV Size: 95420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11458.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: 24874369
CNV End: 24918266
CNV Size: 43898
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11775.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: 27042447
CNV End: 27076495
CNV Size: 34049
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11834.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: 21937146
CNV End: 22428941
CNV Size: 491796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

marshall_08_ASD_discovery_cases-MM0289-003

Clinical Profile:

Language delay, moderate repetitive behavior

Cognitive Profile:

IQ/LOF 45

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21889986
CNV End: 22692541
CNV Size: 802556
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

morrow_08_ASD_discovery_cases-case3301

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 22534000
CNV End: 22602000
CNV Size: 67700
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

pinto_10_ASD_discovery_cases-case14071_1240

Clinical Profile:

Phrase speech delay, neurodevelopmental delay with onset at 2 y, no dysmorphic features, no epilepsy, sleep problems

Cognitive Profile:

Mild MR

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21869594
CNV End: 22432302
CNV Size: 562709
Validation Description: qPCR-Paternal
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

pinto_10_ASD_discovery_cases-case3174_003

Clinical Profile:

Language delay, some gross and fine motor coordination difficulties, no dysmorphic features or associated medical or psychiatric problems, no epilepsy. Brother with 16p12.1 CNV: Autism, low average IQ, language delay, some mild dysmorphic facial features, no epilepsy

Cognitive Profile:

Low average IQ

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21935909
CNV End: 22424490
CNV Size: 488582
Validation Description: qPCR-Paternal,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

pinto_10_ASD_discovery_cases-case5366_5

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: pcnv-maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case6261_3

Clinical Profile:

Language delay, hearing deficit detected at 1 yr, treated with hearing aid, audiogram at 4 yrs normal; normal physical exam, no epilepsy, normal brain CT

Cognitive Profile:

Mild MR

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21935909
CNV End: 22412377
CNV Size: 476469
Validation Description: qPCR-Maternal
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

pinto_14_ASD_discovery_cases2-case14335_4490

Clinical Profile:

Autism (based on ADI-R and ADOS), language delay, no functional language, no epilepsy. Family history: N/A.

Cognitive Profile:

Average non-verbal development (Griffiths: language DQ 36, performance DQ 98, global DQ 67).

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21940094
CNV End: 22413473
CNV Size: 473380
Validation Description: Validation not attempted
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

pinto_14_ASD_discovery_cases2-case9809_202

Clinical Profile:

Autism (based on ADI-R and ADOS), no language delay, verbal, seizures

Cognitive Profile:

mild ID (WPPSI-III: VIQ 67, PIQ 65, FSIQ 66)

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21940094
CNV End: 22413473
CNV Size: 473380
Validation Description: Validation not attempted
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

prasad_12_ASD_discovery_cases-case139459L

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: 22625580
CNV End: 22687954
CNV Size: 62375
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-146a1

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21935909
CNV End: 22412377
CNV Size: 476469
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

sanders_11_ASD_discovery_cases-11030.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98

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

Age: 8.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22739394
CNV End: 22833372
CNV Size: 93979
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11458.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126

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

Age: 16.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24876794
CNV End: 24918154
CNV Size: 41361
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11506.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82

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

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 23580394
CNV End: 23601399
CNV Size: 21006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11693.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88

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

Age: 5.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 25909777
CNV End: 25976172
CNV Size: 66396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11775.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26

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

Age: 9.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 27039896
CNV End: 27069589
CNV Size: 29694
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11834.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46

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

Age: 10.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 21952043
CNV End: 22438562
CNV Size: 486520
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, VWA3A, EEF2K, CDR2, MOSMO

sanders_11_ASD_discovery_cases-11869.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86

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

Age: 10.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11989.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83

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

Age: 9.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12076.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98

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

Age: 9.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12271.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40

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

Age: 10.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 23587628
CNV End: 23634027
CNV Size: 46400
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: PALB2, NDUFAB1

sanders_11_ASD_discovery_cases-12289.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86

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

Age: 12.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 23587628
CNV End: 23601399
CNV Size: 13772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12366.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 27226789
CNV End: 27228698
CNV Size: 1910
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-12534.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84

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

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12572.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31

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

Age: 14.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 23580394
CNV End: 23601399
CNV Size: 21006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12674.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86

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

Age: 6.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
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-12682.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92

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

Age: 9.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24459392
CNV End: 24466084
CNV Size: 6693
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12843.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84

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

Age: 6.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 23591804
CNV End: 23597561
CNV Size: 5758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12930.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57

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

Age: 12.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 23587628
CNV End: 23601399
CNV Size: 13772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13018.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75

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

Age: 12.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25567291
CNV Size: 14933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13031.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95

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

Age: 5.1

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13174.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

xu_16_ASD/DD/ID_discovery_cases-case22

Clinical Profile:

Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)

Cognitive Profile:

-

Xu Q , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21964406
CNV End: 22420037
CNV Size: 455632
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

yuen_16_ASD_discovery_cases-sample2-1361-003

Clinical Profile:

Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.

Cognitive Profile:

-

Yuen RK , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 26182048
CNV End: 26194026
CNV Size: 11979
Validation Description: qPCR and/or Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

kushima_18_ASD_discovery_cases-caseASD0073

Clinical Profile:

Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, mood disorders (depressive symptoms), arm waving. Family history: negative.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: ASD, ADHD

Age: 39 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21928119
CNV End: 22428075
CNV Size: 499957
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

kushima_18_SCZ_discovery_cases-caseSCZ0601

Clinical Profile:

No additional clinical information reported for this individual. Family history: unknown.

Cognitive Profile:

-

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

Age: 49 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21928119
CNV End: 22428075
CNV Size: 499957
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

kushima_18_SCZ_discovery_cases-caseSCZ0921

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 37 years of age (core symptoms include auditory hallucinations, persecutory delusions, depressive and manic symptoms), mood symptoms. Congenital and developmental phenotypes: low birth weight. Family history: negative.

Cognitive Profile:

IQ > 70

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

Age: 50 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21928119
CNV End: 22435412
CNV Size: 507294
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

engchuan_15_ASD_discovery_controls-controlB425638_1007872643

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: 21828019
CNV End: 22432302
CNV Size: 604284
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

engchuan_15_ASD_discovery_controls-controlB483586_1007842342

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB490963_1007853895

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: 22597686
CNV End: 22698442
CNV Size: 100757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB624090_1007853967

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: 22597686
CNV End: 22698442
CNV Size: 100757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB709920_1007843547

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB779589_1007853847

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: 22575272
CNV End: 22698442
CNV Size: 123171
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB886417_1007872528

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: 27608774
CNV End: 27650260
CNV Size: 41487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB910439_1007845334

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: 22572406
CNV End: 22698442
CNV Size: 126037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB916582_1007854385

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB957019_1007844002

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB972803_1007842434

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: 22589203
CNV End: 22698442
CNV Size: 109240
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB988624_1007854912

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: 22552697
CNV End: 22698442
CNV Size: 145746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900349_900349

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: 22620078
CNV End: 22698442
CNV Size: 78365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900353_900353

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: 22376973
CNV End: 22432302
CNV Size: 55330
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MFSD13B, RRN3P3, CDR2

engchuan_15_ASD_discovery_controls-controlHABC_900545_900545

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: 22600609
CNV End: 22698442
CNV Size: 97834
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900716_900716

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: 22614315
CNV End: 22698442
CNV Size: 84128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900927_900927

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: 22600609
CNV End: 22698442
CNV Size: 97834
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900989_900989

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: 22600609
CNV End: 22698442
CNV Size: 97834
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901007_901007

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: 22614315
CNV End: 22698442
CNV Size: 84128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901219_901219

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: 22622631
CNV End: 22698442
CNV Size: 75812
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

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: 22622631
CNV End: 22698442
CNV Size: 75812
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902481_902481

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: 22610469
CNV End: 22702291
CNV Size: 91823
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902562_902562

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: 22622631
CNV End: 22698442
CNV Size: 75812
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902564_902564

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: 22622631
CNV End: 22698442
CNV Size: 75812
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902571_902571

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: 22614315
CNV End: 22698442
CNV Size: 84128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902611_902611

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: 26203871
CNV End: 26240251
CNV Size: 36381
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902744_902744

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: 22597902
CNV End: 22698442
CNV Size: 100541
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902800_902800

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: 21955548
CNV End: 22432302
CNV Size: 476755
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_11_ASD_discovery_controls-NIMH_223

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22619299
CNV End: 22693152
CNV Size: 73854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_controls-control91

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_controls-control92

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_controls-control93

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_12_ASD/DD/ID_discovery_controls-control94

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21931178
CNV End: 22421178
CNV Size: 490001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

girirajan_13b_ASD_discovery_controls-10608109423

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-1105102542

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22619299
CNV End: 22693152
CNV Size: 73854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-11105103556

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-17203100441

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22686243
CNV Size: 100603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-33505103850

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-35706106616

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22619299
CNV End: 22693152
CNV Size: 73854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-42606106877

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-46806107025

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22619299
CNV End: 22693152
CNV Size: 73854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-49206107109

Clinical Profile:

Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22686243
CNV Size: 100603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_controls-9507107845

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22585641
CNV End: 22693152
CNV Size: 107512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

itsara_10_ASD_discovery_controls_1-HI0267

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21937801
CNV End: 22412377
CNV Size: 474577
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, VWA3A, EEF2K, CDR2, MOSMO

levy_11_ASD_discovery_controls-11030.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: 22739140
CNV End: 22834559
CNV Size: 95420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_controls-11775.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: 27042447
CNV End: 27076495
CNV Size: 34049
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_controls-12100.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: 23062706
CNV End: 23106250
CNV Size: 43545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11030.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 5.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22739394
CNV End: 22830171
CNV Size: 90778
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11720.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 23578665
CNV End: 23629146
CNV Size: 50482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: PALB2, NDUFAB1

sanders_11_ASD_discovery_controls-11775.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 12.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 27042840
CNV End: 27069589
CNV Size: 26750
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12517.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 23587628
CNV End: 23598069
CNV Size: 10442
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12552.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 25552359
CNV End: 25567291
CNV Size: 14933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12621.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 23877519
CNV End: 23890055
CNV Size: 12537
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12674.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4.6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 25552359
CNV End: 25572061
CNV Size: 19703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12892.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 15.4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 23587628
CNV End: 23598069
CNV Size: 10442
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

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: 25552359
CNV End: 25567291
CNV Size: 14933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13296.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: 23587628
CNV End: 23598069
CNV Size: 10442
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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