Copy Number Variants / 16p12.2

16p12.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
258785
Range
21356420-21577433
Associated Human Genes
-
Associated Mouse Models
-
Autism Reports
22
Populations
29 (23 case / 6 control)
Individuals
96 (65 case / 31 control)
Summary

Summary statement in development

Reports related to 16p12.2 (22 Reports)
# Type Title Author, Year
1 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
2 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
3 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
4 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)
5 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
6 Minor Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
7 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
8 Major 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 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)
11 Minor Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. Yamamoto T , et al. (2014)
12 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
13 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (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 Major Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
18 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
19 Major Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes. Lintas C , et al. (2017)
20 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
21 Minor Copy Number Variations independently induce Autism Spectrum Disorder. Xie Y , et al. (2017)
22 Minor Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Kalsner L , et al. (2017)
Show all Case Details Show all Cohort Details

16p12.2

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 57
Age Max: 57
Average: 57

Male: -
Female: 100
Unknown: -
CNV Size: 238000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

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

16p12.2

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: 141149

Deletion: 2
Duplication: 3

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p12.2

Description:

Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study

Diagnosis:

Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 601824

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH, WES

Validation Method:

None

Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland

16p12.2

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 165056

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (custom NimbleGen 12 X 135)

Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -

16p12.2

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: 139696

Deletion: 2
Duplication: 0

Total CNV: 2
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

16p12.2

Description:

Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program

Diagnosis:

All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2

Kalsner L , et al. (2017)
Cohort Size: 100

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 355000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: Platform not reported
Software: -
Algorithm: -
Geographical Ancestry: 52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity

16p12.2

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: 486690

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

16p12.2

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: 67
Female: 33
Unknown: -
CNV Size: 118286

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

WES

Validation Method:

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

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

16p12.2

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: 65
Female: 35
Unknown: -
CNV Size: 643473

Deletion: 4
Duplication: 4

Total CNV: 8
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

16p12.2

Description:

ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children

Diagnosis:

Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.

Lintas C , et al. (2017)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 140198

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

Validation by visual inspection, RT-PCR, or PCR

Platform: Agilent Human Genome CGH SurePrint G3 4x180K
Software: Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Algorithm: ADM-2
Geographical Ancestry: Italy

16p12.2

Description:

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

Diagnosis:

Cases assessed with ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 149000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p12.2

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Neurodevelopmental disorders

Pfundt R , et al. (2016)
Cohort Size: 1215

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1065521

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

16p12.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 141150

Deletion: 0
Duplication: 2

Total CNV: 2
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

16p12.2

Description:

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

Diagnosis:

Cases classified according to ADOS and ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 138501

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

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

16p12.2

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)

Pfundt R , et al. (2016)
Cohort Size: 1430

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1088574

Deletion: 5
Duplication: 1

Total CNV: 6
Discovery Method:

WES

Validation Method:

Array SNP (Affymetrix CytoScan HD)

Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

16p12.2

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: 123750

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

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

16p12.2

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 48
Age Max: 192
Average: 100

Male: 83
Female: 17
Unknown: -
CNV Size: 669954

Deletion: 4
Duplication: 2

Total CNV: 6
Discovery Method:

Array SNP

Validation Method:

None

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

16p12.2

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 189863

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

FISH

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

16p12.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 141150

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

16p12.2

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: 83
Female: 17
Unknown: -
CNV Size: 221013

Deletion: 3
Duplication: 1

Total CNV: 4
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&

16p12.2

Description:

Patients with microdeletions involving the 15q22.2 region presenting with neurological symptoms

Diagnosis:

Developmental delay/intellectual disability (all 4 cases), epilepsy (3 cases), and autistic features (1 case)

Yamamoto T , et al. (2014)
Cohort Size: 4

Age Min: 168
Age Max: 168
Average: 168

Male: 100
Female: -
Unknown: -
CNV Size: 429000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K, Agilent 44K
Software: -
Algorithm: -
Geographical Ancestry: N/A

16p12.2

Description:

ASD probands referred to the Clinical Genetics Service for genetic testing

Diagnosis:

Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Xie Y , et al. (2017)
Cohort Size: 64

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 143975

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)

Platform: Affymetrix CytoScan HD
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Chinese

16p12.2

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: 507999

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

WGS

Validation Method:

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

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

battaglia_13_DD/ID/ASD_discovery_cases-case48

Clinical Profile:

Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Moderate DD/ID

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

Age: 4 yrs. 9 mos.

Gender: F
Primary Disorder Inheritence: Maternal

Family Profile: Possible multi-generational
CNV Start: 21588366
CNV End: 21826230
CNV Size: 237865
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, METTL9, OTOA

engchuan_15_ASD_discovery_cases-case20150_1630001

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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_cases-case5065_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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_cases-case5208_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: 21590453
CNV End: 21728953
CNV Size: 138501
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_cases-case5507_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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_cases-case8549_201

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259114

Clinical Profile:

Microcephaly; Intellectual disability

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21302928
CNV End: 21904752
CNV Size: 601825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, RNU6-1005P, RNU6-196P, CRYM, CRYM-AS1, SNX29P1, NPIPB3, IGSF6, RRN3P1, NPIPB4, SMG1P3, METTL9, OTOA, SMG1P4

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259571

Clinical Profile:

Synophrys; Early onset of puberty; Persistence of primary teeth; Specific learning disability; Preauricular skin tag; Epicanthus; Hypertelorism; Dental crowding

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Learning disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21837283
CNV End: 22417043
CNV Size: 579761
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262966

Clinical Profile:

Global developmental delay; Microcephaly; Clinodactyly of the 5th finger; Short nose

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21904692
CNV End: 22417043
CNV Size: 512352
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

itsara_10_ASD_discovery_cases-HI2741

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21563897
CNV End: 21728953
CNV Size: 165057
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

kalsner_17_ASD_discovery_cases-case17

Clinical Profile:

Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2

Cognitive Profile:

-

Kalsner L , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21463718
CNV End: 21818736
CNV Size: 355019
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, SMG1P3, METTL9, OTOA

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002311

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: 21600992
CNV End: 21740688
CNV Size: 139697
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: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003983

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: 21600992
CNV End: 21726646
CNV Size: 125655
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: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

kanduri_15_ASD_discovery_cases-case1942

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: 21949122
CNV End: 22435811
CNV Size: 486690
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: C16orf52, CDR2, EEF2K, PDZD9, POLR3E, UQCRC2, VWA3A

krumm_13_ASD_discovery_cases-case12162.p1

Clinical Profile:

ASD proband from SSC quad family 12162. SRS score of 77.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 67.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21624930
CNV End: 21726658
CNV Size: 101729
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_13_ASD_discovery_cases-case12441.p1

Clinical Profile:

ASD proband from SSC quad family 12441. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 28.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21644289
CNV End: 21752505
CNV Size: 108217
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGSF6, METTL9, OTOA

krumm_13_ASD_discovery_cases-case12697.p1

Clinical Profile:

ASD proband from SSC quad family 12697. SRS score of 80.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 85.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21644289
CNV End: 21757277
CNV Size: 112989
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGSF6, METTL9, OTOA

krumm_13_ASD_discovery_cases-case13139.p1

Clinical Profile:

ASD proband from SSC quad family 13139. SRS score of 73.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 127.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21612644
CNV End: 21730930
CNV Size: 118287
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case11834.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: 21953423
CNV End: 22374309
CNV Size: 420887
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, VWA3A, EEF2K, CDR2, MOSMO

krumm_15_ASD_discovery_cases-case11841.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21612644
CNV End: 21752505
CNV Size: 139862
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case12162.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: 21624930
CNV End: 21728431
CNV Size: 103502
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case13139.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: 21612644
CNV End: 21726658
CNV Size: 114015
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case13657.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: 21612644
CNV End: 21726658
CNV Size: 114015
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case14280.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: 21624930
CNV End: 21726658
CNV Size: 101729
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_cases-case14433.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: 21953423
CNV End: 22365014
CNV Size: 411592
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, VWA3A, EEF2K, CDR2, MOSMO

krumm_15_ASD_discovery_cases-case14470.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: 21730836
CNV End: 22374309
CNV Size: 643474
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

lintas_17_ASD_discovery_cases-case8.1

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Asperger syndrome

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21588366
CNV End: 21728564
CNV Size: 140199
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

nava_13_ASD_discovery_cases-Fam1072Proband10780

Clinical Profile:

Additional clinical profile info N/A

Cognitive Profile:

ID

Nava C , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21579836
CNV End: 21728910
CNV Size: 149075
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

nava_13_ASD_discovery_cases-Fam789Proband9996

Clinical Profile:

Additional clinical profile info N/A

Cognitive Profile:

ID

Nava C , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21587804
CNV End: 21728910
CNV Size: 141107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal), absent in 2 affected brothers
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

pfundt_16_NDD_discovery_cases-case11

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21599534
CNV End: 21730931
CNV Size: 131398
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

pfundt_16_NDD_discovery_cases-case140

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: OTOA deletion / Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21726522
CNV End: 22792043
CNV Size: 1065522
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

pfundt_16_NDD_discovery_cases-case4

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microduplication syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21612644
CNV End: 21819175
CNV Size: 206532
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, METTL9, OTOA

pfundt_16_nonNDD_discovery_cases-case112

Clinical Profile:

Disease cohort: renal disoder. Description: 16p11.2-p12.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21726522
CNV End: 22815096
CNV Size: 1088575
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, HS3ST2, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

pfundt_16_nonNDD_discovery_cases-case26

Clinical Profile:

Disease cohort: deafness. Description: OTOA deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21278081
CNV End: 21957319
CNV Size: 679239
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, RNU6-1005P, RNU6-196P, CRYM, CRYM-AS1, SNX29P1, NPIPB3, IGSF6, RRN3P1, NPIPB4, UQCRC2, SMG1P3, METTL9, OTOA, SMG1P4

pfundt_16_nonNDD_discovery_cases-case28

Clinical Profile:

Disease cohort: deafness. Description: homozygous OTOA deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21302977
CNV End: 21953457
CNV Size: 650481
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, RNU6-1005P, RNU6-196P, CRYM, CRYM-AS1, SNX29P1, NPIPB3, IGSF6, RRN3P1, NPIPB4, UQCRC2, SMG1P3, METTL9, OTOA, SMG1P4

pfundt_16_nonNDD_discovery_cases-case58

Clinical Profile:

Disease cohort: muscle disorder. Description: 16p11.2-p12.2 microduplication syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21730836
CNV End: 22792043
CNV Size: 1061208
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

pfundt_16_nonNDD_discovery_cases-case86

Clinical Profile:

Disease cohort: muscle disorder. Description: 16p11.2-p12.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21730836
CNV End: 22815096
CNV Size: 1084261
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, NPIPB5, OTOAP1, HS3ST2, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

pfundt_16_nonNDD_discovery_cases-case91

Clinical Profile:

Disease cohort: deafness. Description: heterozygous OTOA deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21315883
CNV End: 21953457
CNV Size: 637575
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, RNU6-1005P, RNU6-196P, CRYM-AS1, SNX29P1, NPIPB3, IGSF6, RRN3P1, NPIPB4, UQCRC2, SMG1P3, METTL9, OTOA, SMG1P4

pinto_10_ASD_discovery_cases-case5065_3

Clinical Profile:

Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted

Cognitive Profile:

Below average nonverbal IQ (<1%ile)

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

pinto_10_ASD_discovery_cases-case5208_3

Clinical Profile:

Low average language, no epilepsy; mother treated with valproic acid for epilepsy during pregnancy, fetal tachycardia during labor, forceps delivery at 33 1/2 wks, poor respiratory effort, on ventilation; CT scan: mild cortical atrophy, normal EEGs; neurological exam: tight hamstrings, toe walking; dysmorphic features: thin upper lip, small chin, flattened nasolabial fold, flattened occiput, small hands/fingers, lingual frenulum

Cognitive Profile:

Above average nonverbal IQ

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21590453
CNV End: 21728953
CNV Size: 138501
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

pinto_14_ASD_discovery_cases2-case8549_201

Clinical Profile:

Autism on ADI-R and ADOS; height and weight normal; front teeth protruding and conspicuous, no other dysmorphic features; astigmatism; fitted with splints for aberrant leg growth and mild deformation of hips at 18 mo; no epilepsy; brain CT at 8 y: mild dilatation of occipital horn of the left ventricle and mild atrophy in that region. Family history: father has reading difficulty and may have social impairment; mother with macular degeneration and mood disorder.

Cognitive Profile:

Average IQ (VIQ 101, PIQ 107, FSIQ 104)

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21590453
CNV End: 21728953
CNV Size: 138501
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

poultney_13_ASD_discovery_cases-case01HI2115A

Clinical Profile:

ASD case from AGRE (AGRE ID AU058304; NDAR ID NDAR_INVUY327HPB)

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: 21612643
CNV End: 21736392
CNV Size: 123750
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

poultney_13_ASD_discovery_cases-case04HI3447A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1252301; NDAR ID NDAR_INVMY700DPC)

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: 21612643
CNV End: 21736392
CNV Size: 123750
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

poultney_13_ASD_discovery_cases-case05HI3730A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)

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: 21233736
CNV End: 21269893
CNV Size: 36158
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: ANKS4B, CRYM

quintela_17_DD/ID_discovery_cases-caseID_287

Clinical Profile:

ADHD, microcephaly

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability and ADHD

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21565481
CNV End: 21830033
CNV Size: 264553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, METTL9, OTOA

quintela_17_DD/ID_discovery_cases-caseID_339

Clinical Profile:

Severe language disorder. CNV inherited from unaffected parent.

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21750083
CNV End: 22420036
CNV Size: 669954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, OTOA, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

quintela_17_DD/ID_discovery_cases-caseID_361

Clinical Profile:

Epilepsy

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 16 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21565481
CNV End: 21841611
CNV Size: 276131
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, NPIPB4, METTL9, OTOA

quintela_17_DD/ID_discovery_cases-caseID_444

Clinical Profile:

Microcephaly

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21790568
CNV End: 22420036
CNV Size: 629469
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RRN3P1, NPIPB4, UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P4, VWA3A, EEF2K, CDR2, MOSMO

quintela_17_DD/ID_discovery_cases-caseID_508

Clinical Profile:

ASD

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: ASD and intellectual disability

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21565481
CNV End: 21805222
CNV Size: 239742
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, METTL9, OTOA

quintela_17_DD/ID_discovery_cases-caseID_563

Clinical Profile:

Additional clinical information N/A

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 8 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21584978
CNV End: 21806601
CNV Size: 221624
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, RRN3P1, METTL9, OTOA

rosenfeld_10_ASD_discovery_cases-case26073

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21509120
CNV End: 21698983
CNV Size: 189863
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: METTL9, IGSF6, OTOA

rosenfeld_10_ASD_discovery_cases-case26715

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21482208
CNV End: 21641889
CNV Size: 159681
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: METTL9, IGSF6, OTOA

rosenfeld_10_ASD_discovery_cases-case29295

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21509120
CNV End: 21698983
CNV Size: 189863
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: METTL9, IGSF6, OTOA

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128

Clinical Profile:

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

Cognitive Profile:

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

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

sanders_11_ASD_discovery_cases-11049.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107

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

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 21345099
CNV End: 21566112
CNV Size: 221014
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-1, SLC7A5P2, SNX29P1, NPIPB3, SMG1P3

sanders_11_ASD_discovery_cases-11859.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47

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

Age: 4.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 20952345
CNV End: 20963981
CNV Size: 11637
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12296.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52

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

Age: 15.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20948596
CNV End: 20963981
CNV Size: 15386
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12367.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117

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

Age: 9.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20952345
CNV End: 20963981
CNV Size: 11637
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

yamamoto_14_ID/EP_discovery_cases-case4

Clinical Profile:

Case present in DECIPHER database (DECIPHER ID #270602). Birth/neonatal history: born at 41 weeks of gestation; birth weight of 3400 g (M), length of 52 cm (+2.0 SD), and OFC of 35 cm (M); unremarkable pregnancy. Developmental milestones: head control and following things with his eyes at 4 months; started to walk at age of 24 months; significant delay in language development. Language and communication evaluation: able to speak about 50 meaningful words at age of 11 years. Motor and musculoskeletal evaluation: short hands, pes cavus. Behavioral/psychiatric evaluation: autistic features; no reported sleep disturbances, no abnormal eating behavior. Epilepsy/seizures: patient started to show seizure attacks associated with drooling, which were intractable to antiepileptic treatment, at 3 months of age. Other features: ophthalmological surgery performed to correct strabismus at age of 9 years; puberty has not started in patient. Dysmorphic features: square face, prominent forehead, short philtrum, pointed chin, brachycephaly, downturned corners of mouth, deep-set eyes, prominent ears, strabismus (surgically corrected).

Cognitive Profile:

Mild-moderate intellectual disability; estimated developmental quotient of 50

Yamamoto T , et al. (2014)
Primary Diagnosis: Intellectual disability, epilepsy, and autistic features

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21940058
CNV End: 22368876
CNV Size: 428819
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, VWA3A, EEF2K, CDR2, MOSMO

yingjun_17_ASD_discovery_cases-case9943

Clinical Profile:

Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.

Cognitive Profile:

-

Xie Y , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21584978
CNV End: 21728953
CNV Size: 143976
Validation Description: N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

yuen_17_ASD_discovery_cases-case1-0517-009

Clinical Profile:

Case cohort: ASD: Genomes to Outcome Study. Clinical description: Speech Language Delay - Communication Skills Problem; receptive/expressive language delay

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: 21929880
CNV End: 22437879
CNV Size: 508000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, VWA3A, EEF2K, CDR2, MOSMO

yuen_17_ASD_discovery_cases-case2-0289-003

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: 21932679
CNV End: 22436679
CNV Size: 504001
Validation Description: Illumina1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

yuen_17_ASD_discovery_cases-case2-0289-004

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: 21932679
CNV End: 22436679
CNV Size: 504001
Validation Description: Agilent 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, VWA3A, EEF2K, CDR2, MOSMO

yuen_17_ASD_discovery_cases-caseAU3996301

Clinical Profile:

Case cohort: AGRE. 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: 21931680
CNV End: 22437879
CNV Size: 506200
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, VWA3A, EEF2K, CDR2, MOSMO

yuen_17_ASD_discovery_cases-caseAU3996302

Clinical Profile:

Case cohort: AGRE. 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: 21931680
CNV End: 22437879
CNV Size: 506200
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, MFSD13B, RRN3P3, SMG1P1, 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-controlB100331_1007873991

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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlB410426_1007840271

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: 21563897
CNV End: 21728953
CNV Size: 165057
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlB488908_1007854765

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: 21566112
CNV End: 21728953
CNV Size: 162842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlB521946_1007854330

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: 21587804
CNV End: 21747375
CNV Size: 159572
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlB690307_1007841030

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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlB719140_1007853740

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: 21590453
CNV End: 21728953
CNV Size: 138501
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlHABC_900045_900045

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: 21587804
CNV End: 21728953
CNV Size: 141150
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlHABC_900509_900509

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: 21579252
CNV End: 21728953
CNV Size: 149702
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlHABC_901119_901119

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: 21579252
CNV End: 21728953
CNV Size: 149702
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlHABC_902462_902462

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: 21563897
CNV End: 21736369
CNV Size: 172473
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

engchuan_15_ASD_discovery_controls-controlHABC_902843_902843

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: 21579252
CNV End: 21728953
CNV Size: 149702
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

girirajan_11_ASD_discovery_controls-NIMH_122

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: 21523080
CNV End: 21725579
CNV Size: 202500
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

girirajan_11_ASD_discovery_controls-NIMH_123

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: 21608493
CNV End: 21725579
CNV Size: 117087
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

girirajan_11_ASD_discovery_controls-NIMH_208

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: 21520157
CNV End: 21764756
CNV Size: 244600
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLC7A5P2, RNU6-1005P, RNU6-196P, IGSF6, SMG1P3, METTL9, OTOA

girirajan_13b_ASD_discovery_controls-55209112484

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: 21523080
CNV End: 21725579
CNV Size: 202500
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

kanduri_15_ASD_discovery_controls-control_split1240

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21608472
CNV End: 21839340
CNV Size: 230869
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: IGSF6, METTL9, OTOA

kanduri_15_ASD_discovery_controls-control_split646

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21608472
CNV End: 21737626
CNV Size: 129155
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: IGSF6, METTL9, OTOA

krumm_13_ASD_discovery_controls-control12100.s1

Clinical Profile:

Unaffected sibling from SSC quad family 12100. SRS score of 38.

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 23068045
CNV End: 23106487
CNV Size: 38443
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_controls-control13139.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13139. SRS score of 39.

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21612644
CNV End: 21752505
CNV Size: 139862
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_controls-control12100.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: 23068045
CNV End: 23106487
CNV Size: 38443
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control12972.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: 23445047
CNV End: 23470165
CNV Size: 25119
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: COG7, GGA2

krumm_15_ASD_discovery_controls-control13139.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: 21612644
CNV End: 21726658
CNV Size: 114015
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_controls-control13239.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: 22008301
CNV End: 22080880
CNV Size: 72580
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control13279.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: 21624930
CNV End: 21760540
CNV Size: 135611
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_controls-control13497.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: 21644289
CNV End: 21752505
CNV Size: 108217
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_controls-control13842.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: 22008301
CNV End: 22080880
CNV Size: 72580
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control13938.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: 21612644
CNV End: 21760540
CNV Size: 147897
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

krumm_15_ASD_discovery_controls-control14075.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: 21612644
CNV End: 21726658
CNV Size: 114015
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1005P, RNU6-196P, IGSF6, METTL9, OTOA

poultney_13_ASD_discovery_controls-control04C30251A

Clinical Profile:

NIMH Control (NIMH ID 18125)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21953422
CNV End: 22374311
CNV Size: 420890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UQCRC2, PDZD9, SDR42E2, POLR3E, VWA3A, EEF2K, CDR2, MOSMO

sanders_11_ASD_discovery_controls-11470.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 12.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20952345
CNV End: 20963981
CNV Size: 11637
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12367.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20952996
CNV End: 20963981
CNV Size: 10986
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
Submit New Gene

Report an Error