16p12.2
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
258785Range
21356420-21577433Associated Human Genes
-Associated Mouse Models
-Autism Reports
22Populations
29 (23 case / 6 control)Individuals
96 (65 case / 31 control)Summary
Summary statement in development
External Links
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) |
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:
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:
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:
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
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
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
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
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
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
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
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
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
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
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
No control populations reported.
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
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
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
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
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
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
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
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
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
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
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
girirajan_11_ASD_discovery_controls-NIMH_122
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
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
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
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
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_13b_ASD_discovery_controls-55209112484
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
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: -
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-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)