Copy Number Variants / 17q11.2

17q11.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
604116
Range
29015932-29149664
Associated Human Genes
NF1, NF1, PHF12, RNF135, SLC6A4, TAOK1, TAOK1
Associated Mouse Models
-
Autism Reports
20
Populations
27 (21 case / 6 control)
Individuals
94 (77 case / 17 control)
Summary

Summary statement in development

Reports related to 17q11.2 (20 Reports)
# Type Title Author, Year
1 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)
2 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)
3 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)
4 Minor Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. Gannon WT , et al. (2011)
5 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
6 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
7 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
8 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
9 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
10 Minor Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , et al. (2014)
11 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
12 Minor Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. Moreira DP , et al. (2014)
13 Major Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. Dharmadhikari AV , et al. (2014)
14 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
15 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
16 Minor The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
17 Minor The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Wenger TL , et al. (2016)
18 Major Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Wolfe K , et al. (2016)
19 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
20 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
Show all Case Details Show all Cohort Details

17q11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 4524

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

PCR, array SNP

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

17q11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 58569

Deletion: 0
Duplication: 1

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: -

17q11.2

Description:

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

Diagnosis:

Cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 25165

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

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

17q11.2

Description:

Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").

Diagnosis:

Intellectual disability, developmental delay, and/or ASD

Coe BP , et al. (2014)
Cohort Size: 29085

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1050000

Deletion: 7
Duplication: 7

Total CNV: 14
Discovery Method:

aCGH

Validation Method:

None

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

17q11.2

Description:

Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France

Diagnosis:

Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.

Dharmadhikari AV , et al. (2014)
Cohort Size: 4

Age Min: 50
Age Max: 50
Average: 50

Male: 100
Female: -
Unknown: -
CNV Size: 1090000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
Software: -
Algorithm: -
Geographical Ancestry: 2 cases from United States, 1 case from Germany, 1 case from France

17q11.2

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 173971

Deletion: 1
Duplication: 5

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

17q11.2

Description:

Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic

Diagnosis:

Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism

Gannon WT , et al. (2011)
Cohort Size: 187

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Genome-wide oligo array with 44K platform
Software: -
Algorithm: -
Geographical Ancestry: Gulf Coast of Alabama, Mississippi, & Florida

17q11.2

Description:

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

Diagnosis:

Developmental delay with or without congenital malformations

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1180000

Deletion: 9
Duplication: 6

Total CNV: 15
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

17q11.2

Description:

ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

Diagnosis:

Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Gazzellone MJ , et al. (2014)
Cohort Size: 104

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 203162

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese

17q11.2

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: 315402

Deletion: 1
Duplication: 0

Total CNV: 1
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

17q11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1457634

Deletion: 9
Duplication: 6

Total CNV: 15
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

17q11.2

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 1369

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

17q11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 31655

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

17q11.2

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

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

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 20
Unknown: 20
CNV Size: 85460

Deletion: N/A
Duplication: N/A

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

17q11.2

Description:

ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions

Diagnosis:

ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.

Moreira DP , et al. (2014)
Cohort Size: 531

Age Min: 132
Age Max: 132
Average: 132

Male: 100
Female: -
Unknown: -
CNV Size: 101000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Various Affymetrix platforms
Software: -
Algorithm: -
Geographical Ancestry: Ethnically-mixed Brazilian

17q11.2

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 148346

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

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

17q11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 16579

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

qPCR

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

17q11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 69
Female: 31
Unknown: -
CNV Size: 133732

Deletion: 4
Duplication: 3

Total CNV: 7
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&

17q11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 37085

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

17q11.2

Description:

Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.

Diagnosis:

All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).

Wolfe K , et al. (2016)
Cohort Size: 202

Age Min: 684
Age Max: 684
Average: 684

Male: 100
Female: -
Unknown: -
CNV Size: 1213713

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR, FISH, QF-PCR

Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British

17q11.2

Description:

ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th

Diagnosis:

ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5

C Yuen RK et al. (2017)
Cohort Size: 2626

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1412000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

WGS

Validation Method:

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

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

brandler_18_ASD_discovery_cases-caseREACH000377

Clinical Profile:

Case from REACH cohort

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29498526
CNV End: 29503050
CNV Size: 4525
Validation Description: PCR or SNP data validation (SNP VCF)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-caseSSC07701

Clinical Profile:

Case from SSC_phase2 cohort

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29674048
CNV End: 29699212
CNV Size: 25165
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABHD15-AS1, SSH2

celestino-soper_11_ASD_discovery_cases-11348

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: 31216595
CNV End: 31275164
CNV Size: 58570
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OMG, NF1

coe_14_ASD/DD/ID_discovery_cases-case271

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case272

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case273

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case274

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case275

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case276

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case277

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case278

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case279

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case280

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case281

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case282

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case283

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

coe_14_ASD/DD/ID_discovery_cases-case284

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4

dharmadhikari_14_ASD/ID_discovery_cases-case1

Clinical Profile:

Birth/neonatal history: maternal complications prior to delivery (placenta previa); born at term by spontaneous vaginal delivery; birth weight of 3.2 kg. Developmental milestones: sat unassisted at 5 months, began walking at 9 months. Language and communication evaluation: speech delay; very limited in number of words used. Behavioral/psychiatric evaluation: found to be anxious, hyperactive, uncooperative, aggressive, and impulsive. Sleep disturbances: sweating at night, bedwetting. Additional medical history: complains of abdominal pain and feels naseous every 2-3 weeks (no vomiting); normal pulmonary findings; has had numerous viral upper respiratory infections; hospitalized around 18 months of age for pneumonia. Dysmorphic features: broad forehead, sparse eyebrows, mildly low-set ears, nasal features with small alae, broad tip, and broad bridge, brachydactyly of fingers and toes, one cafe-au-lait macule on left flank. Family history: third child of a non-consanguineous 20-year-old mother and 22-year-old father (both reportedly in good health with no learning, speech, or lung problems).

Cognitive Profile:

-

Dharmadhikari AV , et al. (2014)
Primary Diagnosis: Speech delay and behavioral problems

Age: 4 yrs. 2 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: 1090000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

engchuan_15_ASD_discovery_cases-case14210_3370

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: 30641132
CNV End: 30769803
CNV Size: 128672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, SMURF2P1-LRRC37BP1, CRLF3

engchuan_15_ASD_discovery_cases-case14318_2740

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: 30688914
CNV End: 30862885
CNV Size: 173972
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, SUZ12P1, ATAD5, CRLF3

engchuan_15_ASD_discovery_cases-case16034_1571009001

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: 30515520
CNV End: 30611359
CNV Size: 95840
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT17P3, GOSR1, SMURF2P1, ALOX12P1, SMURF2P1-LRRC37BP1

engchuan_15_ASD_discovery_cases-case18171_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: 30688914
CNV End: 30837005
CNV Size: 148092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, ATAD5, CRLF3

engchuan_15_ASD_discovery_cases-case2303_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: 29969309
CNV End: 30021029
CNV Size: 51721
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3495_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: 30021029
CNV End: 30059508
CNV Size: 38480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY4P13, EFCAB5

gannon_11_ASD/DD_discovery_cases-patientS

Clinical Profile:

Dysmorphic features: unknown

Cognitive Profile:

IQ unknown

Gannon WT , et al. (2011)
Primary Diagnosis: ASD and/or DD

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gazzellone_14_ASD_discovery_cases-case690-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30610633
CNV End: 30813795
CNV Size: 203163
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SH3GL1P2, LRRC37BP1, RN7SL316P, SMURF2P1, SUZ12P1, SMURF2P1-LRRC37BP1, CRLF3

girirajan_12_ASD/DD/ID_discovery_cases-case10538

Clinical Profile:

Seizure disorder, short stature, macrocephaly

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1418

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1419

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1420

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1421

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1422

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1423

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1424

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1425

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1426

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1427

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1428

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1429

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1430

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_12_ASD/DD/ID_discovery_cases-case1431

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: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

girirajan_13b_ASD_discovery_cases-23404100705

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: 31907725
CNV End: 32223127
CNV Size: 315403
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP437, SH3GL1P1, WDR45BP1, ARGFXP2, LRRC37B, SUZ12, RHOT1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000185

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: 30706864
CNV End: 32099761
CNV Size: 1392898
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000600

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: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001788

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: 30767194
CNV End: 31937486
CNV Size: 1170293
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001805

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: 31223174
CNV End: 31246335
CNV Size: 23162
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001819

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: 30630734
CNV End: 32088380
CNV Size: 1457647
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: LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001904

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: 30706863
CNV End: 31994624
CNV Size: 1287762
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198

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: 30893477
CNV End: 30993653
CNV Size: 100177
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: RN7SL138P, DPRXP4, ATAD5, TEFM, RNF135, ADAP2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002319

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: 30667972
CNV End: 32023858
CNV Size: 1355887
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: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002533

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: 30672816
CNV End: 31999939
CNV Size: 1327124
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003913

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: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004077

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: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004311

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: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004545

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: 30613848
CNV End: 31875279
CNV Size: 1261432
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: SH3GL1P2, LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SMURF2P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004720

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: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005422

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: 30650145
CNV End: 31015565
CNV Size: 365421
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: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, SUZ12P1, ATAD5, TEFM, RNF135, SMURF2P1-LRRC37BP1, CRLF3, ADAP2

kanduri_15_ASD_discovery_cases-case2008

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30190348
CNV End: 30222002
CNV Size: 31655
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

krumm_13_ASD_discovery_cases-case13843.p1

Clinical Profile:

ASD proband from SSC quad family 13843. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 66.

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 28591697
CNV End: 28593066
CNV Size: 1370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11464.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 30784186
CNV End: 30804110
CNV Size: 19925
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SUZ12P1, CRLF3

krumm_15_ASD_discovery_cases-case13133.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: 29676802
CNV End: 29695543
CNV Size: 18742
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABHD15-AS1, SSH2

krumm_15_ASD_discovery_cases-case14459.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: N/A

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 30784186
CNV End: 30869646
CNV Size: 85461
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-298P, SUZ12P1, ATAD5, CRLF3

moreira_14_ASD/EP_discovery_cases-case9

Clinical Profile:

Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular atrophy of the legs. Epilepsy/seizures: yes. Dysmorphic features: none reported. Growth parameters: height of 160 cm (>97th %ile), weight of 50.5 kg (90th-95th %ile), and head circumference of 54.5 cm (75th-98th %ile).

Cognitive Profile:

-

Moreira DP , et al. (2014)
Primary Diagnosis: ASD and epilepsy

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 27647231
CNV End: 27748498
CNV Size: 101268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CPDP1, LGALS9, LGALS9DP, NOS2P1

poultney_13_ASD_discovery_cases-case05HI3851A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 28042874
CNV End: 28191219
CNV Size: 148346
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RPS29P22, NLK

prasad_12_ASD_discovery_cases-case55497

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: 25429686
CNV End: 25446264
CNV Size: 16579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case87042

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 26493256
CNV End: 26507432
CNV Size: 14177
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

sanders_11_ASD_discovery_cases-11033.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56

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

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 30539628
CNV End: 30673001
CNV Size: 133374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: KRT17P3, SH3GL1P2, LRRC37BP1, SMURF2P1, ALOX12P1, SMURF2P1-LRRC37BP1

sanders_11_ASD_discovery_cases-11464.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78

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

Age: 4.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 30688914
CNV End: 30822646
CNV Size: 133733
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, CRLF3

sanders_11_ASD_discovery_cases-11541.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108

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

Age: 10.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 31181757
CNV End: 31226455
CNV Size: 44699
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11753.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128

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

Age: 17.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12078.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113

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

Age: 9.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 31500100
CNV End: 31500411
CNV Size: 312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12359.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69

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

Age: 9.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 28440862
CNV End: 28473228
CNV Size: 32367
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12671.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108

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

Age: 12.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 28686450
CNV End: 28691078
CNV Size: 4629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

wenger_16_ASD_discovery_cases-case42

Clinical Profile:

Prior clinical diagnosis of genetic syndrome: n/a

Cognitive Profile:

-

Wenger TL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32448743
CNV End: 32485827
CNV Size: 37085
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

wolfe_16_ID_discovery_cases-DECIPHER327132

Clinical Profile:

Psychiatric history: autistic spectrum disorder (ASD), challenging behavior. Mini PAS-ADD evaluation: anxiety disorder, hypomania, obsessive compulsive disorder (OCD). BPI-S evaluation: at least weekly self-injurious behavior, aggressive/destructive behavior, and stereotyped behavior. Medical history: pacemaker in situ (long Q-T syndrome), hypothyroidism, hypercholesterolemia, cataracts. Dysmorphic features: abnormalities of the figners. Growth parameters: height 179 cm, head circumference 60 cm. Ethnicity: white (British).

Cognitive Profile:

Severe intellectual disability

Wolfe K , et al. (2016)
Primary Diagnosis: Intellectual disability, ASD, and OCD

Age: 57 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 30741126
CNV End: 31954837
CNV Size: 1213712
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4

yuen_17_ASD_discovery_cases-case1-0347-003

Clinical Profile:

Case cohort: ASD: Genomes to Outcome Study. Clinical description: NF1; ADHD; learning in low average range

Cognitive Profile:

-

C Yuen RK et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31142982
CNV End: 31156982
CNV Size: 14001
Validation Description: Agilent 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

yuen_17_ASD_discovery_cases-case1-0683-003

Clinical Profile:

Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A

Cognitive Profile:

-

C Yuen RK et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 30670982
CNV End: 32082981
CNV Size: 1412000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
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-controlB393761_1007852612

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: 30455972
CNV End: 30588332
CNV Size: 132361
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT17P3, GOSR1, ALOX12P1, SMURF2P1-LRRC37BP1, CPD

engchuan_15_ASD_discovery_controls-controlB476506_1007852940

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: 28560110
CNV End: 28599826
CNV Size: 39717
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PIGS, SPAG5, SPAG5-AS1, ALDOC

engchuan_15_ASD_discovery_controls-controlHABC_902479_902479

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: 28954962
CNV End: 29017412
CNV Size: 62451
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PIPOX, SEZ6

krumm_13_ASD_discovery_controls-control11484.s1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 30984616
CNV End: 30997331
CNV Size: 12716
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_controls-control13843.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13843. SRS score of 42.

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 28591697
CNV End: 28593066
CNV Size: 1370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control11484.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 30984616
CNV End: 30999191
CNV Size: 14576
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control12299.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 30984616
CNV End: 30999191
CNV Size: 14576
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_controls-11258.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: 31362460
CNV End: 31399261
CNV Size: 36802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NF1, RAB11FIP4

poultney_13_ASD_discovery_controls-control05C39104A

Clinical Profile:

NIMH Control (NIMH ID 78120)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 27645859
CNV End: 27648984
CNV Size: 3126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_controls-control05C42882

Clinical Profile:

NIMH Control (NIMH ID 48943)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 30984615
CNV End: 30999193
CNV Size: 14579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11033.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 30539628
CNV End: 30588332
CNV Size: 48705
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: KRT17P3, ALOX12P1, SMURF2P1-LRRC37BP1

sanders_11_ASD_discovery_controls-11258.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 31362412
CNV End: 31397690
CNV Size: 35279
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: NF1, RAB11FIP4

sanders_11_ASD_discovery_controls-11330.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11484.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 14.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 30974590
CNV End: 30992938
CNV Size: 18349
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: DPRXP4, RNF135

sanders_11_ASD_discovery_controls-11753.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 15.1

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12096.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29979751
CNV Size: 4470
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

kushima_18_ASD/SCZ_discovery_controls-controlCON1782

Clinical Profile:

This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.

Cognitive Profile:

-

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

Age: 29 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 30636641
CNV End: 32067548
CNV Size: 1430908
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: -
Genome Build: GRCh38
Gene Content: LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
Genes associated with 17q11.2(0 Models)
NF1 8  /  25 Rare Single Gene Mutation, Syndromic, Genetic Association
Score
1
NF1 8  /  25 Rare Single Gene Mutation, Syndromic, Genetic Association
Score
1
PHF12 2  /  2 Rare Single Gene Mutation
Score
1
RNF135 2  /  4 Rare Single Gene Mutation, Syndromic, Genetic Association
Score
3
SLC6A4 16  /  26 Rare Single Gene Mutation, Genetic Association
Score
3
TAOK1 2  /  3 Rare Single Gene Mutation, Syndromic
Score
1
TAOK1 2  /  3 Rare Single Gene Mutation, Syndromic
Score
1
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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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