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22q11.1CNV Type: Deletion-Duplication


Largest CNV size: 302882 bp

Statistics Box:
Number of Reports: 16


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 225102
 2
 0
 2
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 1275000
 0
 1
 1
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 416880
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 548987
 0
 17
 17
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 114885
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1308547
 0
 4
 4
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 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.
 N/A
 N/A
 281317
 0
 1
 1
 krumm_13_ASD_discovery_cases
 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)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 24455
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 379317
 0
 9
 9
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 302882
 0
 1
 1
 mosrati_12_ASD/MR_discovery_cases
 Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
 3
 Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
 Range, 22-31 yrs.
 66.67% Male
 896647
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 12153
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 217201
 0
 3
 3
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 23588
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 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
 N/A
 N/A
 541752
 0
 4
 4
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 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)
 Mean, 9.1 yrs.
 86.1% Male
 141951
 1
 4
 5

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 658085
 0
 10
 10
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 114885
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 57282
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls 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
 N/A
 N/A
 281317
 0
 2
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD 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)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 379317
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 309019
 0
 2
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 379321
 0
 2
 2
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 23588
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 84372
 1
 2
 3

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent 4x180K or 8x60K)
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  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)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 mosrati_12_ASD/MR_discovery_cases
  Tunisian
 Solid phase hybridization
  Illumina HumanCyto12v2.0 BeadChip
 QuantiSNP, PennCNV, VanillaICE
 BeadStudio V3.3
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  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)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11075
 NA
 M
 ASD
 NA
 NA
 15526608
 15751710
  225103
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11554
 NA
 M
 ASD
 NA
 NA
 15542769
 15632604
  89836
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1452
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 9 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score 7 (past score 12); Qualitative abnormalities in nonverbal communication, current score 3 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 2 (past score 7); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 104; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 29. Epilepsy: no history of epilepsy.
 Performance IQ 107, Verbal IQ 102, Full-scale IQ 105
 15280114
 15922838
  642725
 GRCh38
 Duplication
 Yes
  cucinotta_23_ASD_discovery_cases-case17
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 16673097
 17089976
  416880
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1165_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16539448
 16861590
  322143
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13138_1553
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16923715
  548760
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14343_4570
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16551808
 16779064
  227257
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20154_1642001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16594463
 16813361
  218899
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2230_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16779064
  404109
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4060_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16573830
 16813361
  239532
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4203_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16573137
 16813361
  240225
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4371_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16813361
  438406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4453_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16813361
  438406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4459_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16813361
  438406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5017_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16813361
  438406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5206_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16820953
  445998
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5535_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16423355
 16820327
  396973
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6030_6
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16374956
 16813361
  438406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8117_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16556480
 16743048
  186569
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8117_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16764450
 16820327
  55878
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8589_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16461056
 16813361
  352306
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si264
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 51.
 Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 32; Non-verbal IQ, 40.
 17285496
 17401381
  115886
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001081
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 18718532
  1801925
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004295
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 18718532
  1801925
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004831
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 18718532
  1801925
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005036
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 18718532
  1801925
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1493
 N/A
 N/A
 ASD
 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.
 
 17012935
 17294251
  281317
 Unknown
 Duplication
 No
  krumm_13_ASD_discovery_cases-case12997.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12997. SRS score of 81.
 Full-scale IQ (FSIQ) score of 97.
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13418.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13418. SRS score of 61.
 Full-scale IQ (FSIQ) score of 135.
 16783618
 16808073
  24456
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11257.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16590876
 16970193
  379318
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11922.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12483.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16590876
 16808075
  217200
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13418.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16590876
 16808075
  217200
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13533.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13544.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 17148447
 17209677
  61231
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14387.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16783618
 16808073
  24456
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11257.p1
 NA
 M
 ASD
 NA
 NA
 16671511
 16974392
  302882
 GRCh38
 Duplication
 No
  mosrati_12_ASD/MR_discovery_cases-caseV6
 22 yrs.
 F
 Mental retardation
 Behavioral and psychiatric evaluation: no autistic traits. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; two brothers with autistic traits and hearing loss (one brother with additional diagnosis of mental retardation).
 Moderate mental retardation (MR)
 14459545
 15356192
  896647
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case2230_1
 NA
 M
 Autism
 Language delay, no dysmorphic features, fifth finger clinodactyly, obesity, urethral obstruction surgically repaired, bilateral inguinal hernias, chronic ear infections, allergies, no epilepsy, normal brain CT scan
 Moderate MR
 15641026
 15653178
  12153
 Unknown
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1326A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU043903; NDAR ID NDAR_INVXE173GEE)
 
 16590875
 16808075
  217201
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case00HI1429B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU069603; NDAR ID NDAR_INVGC508TJP)
 
 16590875
 16808075
  217201
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0668A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU023504; NDAR ID N/A)
 
 16590875
 16808075
  217201
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case149491L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 15998260
 16021847
  23588
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1036-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 15700331
 15901551
  201221
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1052-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 16439694
 16981295
  541602
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1056-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
 Developmental delay: yes. Intellectual disability: unknown.
 15700331
 15901551
  201221
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-004
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 16472819
 16813361
  340543
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 17386309
 17413571
  27263
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 17278659
 17382326
  103668
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 15901551
 15922939
  21389
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 15780942
 15922939
  141998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 17216891
 17241995
  25105
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036023422_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374956
  17032813
  657858
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036023489_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374956
  16813361
  438406
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036025005_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374956
  16813361
  438406
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16569198
  16813361
  244164
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374498
  16779064
  404567
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900257_900257
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374498
  16813361
  438864
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16573137
  16813361
  240225
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16459604
  16988136
  528533
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16472819
  16813361
  340543
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16374498
  16813361
  438864
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6106105636
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  16915262
  16972544
  57283
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split386
  N/A
  N/A
  Control
  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
 
  15634399
  15655394
  20996
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split386
  N/A
  N/A
  Control
  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
 
  17012935
  17294251
  281317
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control13391.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16783618
  16808073
  24456
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13924.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16590876
  16970193
  379318
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14271.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16783618
  16808073
  24456
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11257.s1
  NA
  M
  Control
  NA
  NA
  16671511
  16974392
  302882
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12346.s1
  NA
  M
  Control
  NA
  NA
  16508382
  16817400
  309019
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37985A
  N/A
  F
  Control
  NIMH Control (NIMH ID 75535)
 
  16590875
  16808075
  217201
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44954
  N/A
  F
  Control
  NIMH Control (NIMH ID 12344)
 
  16590875
  16970195
  379321
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  15838521
  15922939
  84419
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12228.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  15838521
  15922939
  84419
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  17216891
  17241995
  25105
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11075
 aCGH (Agilent 4x180K or 8x60K)
 
 De novo
 Simplex
 NA
 OR11H1,ARHGAP42P3,NEK2P2,MED15P7,POTEH-AS1,RNU6-816P,GRAMD4P2,NF1P6,POTEH,LINC01297
 
 celestino-soper_11_ASD_discovery_cases-11554
 aCGH (Agilent 4x180K or 8x60K)
 
 De novo
 Simplex
 NA
 ARHGAP42P3,NEK2P2,NF1P6
 
 chen_17_ASD_discovery_cases-caseU-1452
 RT-qPCR
 
 Maternal
 
 
 BNIP3P2,YME1L1P1,OR11H1,ARHGAP42P3,NEK2P2,MED15P7,POTEH-AS1,RNU6-816P,GRAMD4P2,NF1P6,POTEH,LINC01297,DUXAP8,BMS1P22,ZNF72P,NBEAP3
 
 cucinotta_23_ASD_discovery_cases-case17
 
 
 Paternal
 
 
 IGKV1OR22-5,IGKV2OR22-4,HSFY1P1,GAB4,XKR3,IGKV1OR22-1,IGKV3OR22-2,IGKV2OR22-3,ZNF402P,VN1R9P,TPTEP1,CECR7,MTND1P17,GPM6BP3,LINC01665,VWFP1,ANKRD62P1,IL17RA,ANKRD62P1-PARP4P3
 
 engchuan_15_ASD_discovery_cases-case1165_3
 
 
 Unknown
 
 
 CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case13138_1553
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case14343_4570
 
 
 Unknown
 
 
 CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case20154_1642001
 
 
 Unknown
 
 
 FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case2230_1
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case4060_1
 
 
 Unknown
 
 
 CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case4203_1
 
 
 Unknown
 
 
 CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case4371_1
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case4453_1
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case4459_1
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case5017_3
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case5206_3
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case5535_3
 
 
 Unknown
 
 
 PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case6030_6
 
 
 Unknown
 
 
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case8117_202
 
 
 Unknown
 
 
 CCT8L2,FABP5P11,PARP4P3,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,TPTEP1,SLC25A15P5
 
 engchuan_15_ASD_discovery_cases-case8117_202
 
 
 Unknown
 
 
 XKR3
 
 engchuan_15_ASD_discovery_cases-case8589_201
 
 
 Unknown
 
 
 CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 girirajan_11_ASD_discovery_cases-Si264
 
 
 Unknown
 Simplex
 
 CECR9,RN7SL843P,CECR2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001081
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004295
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004831
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005036
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,MICAL3
 
 kanduri_15_ASD_discovery_cases-case1493
 
 
 Paternal
 Unknown
 Unknown
 CCT8L2,XKR3
 
 krumm_13_ASD_discovery_cases-case12997.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 XKR3
 
 krumm_13_ASD_discovery_cases-case13418.p1
 
 
 Maternal
 Simplex
 Segregated
 XKR3
 
 krumm_15_ASD_discovery_cases-case11257.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
 krumm_15_ASD_discovery_cases-case11922.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 XKR3
 
 krumm_15_ASD_discovery_cases-case12483.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 XKR3
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 krumm_15_ASD_discovery_cases-case13391.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 XKR3
 
 krumm_15_ASD_discovery_cases-case13418.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 krumm_15_ASD_discovery_cases-case13533.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 XKR3
 
 krumm_15_ASD_discovery_cases-case13544.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 HDHD5-AS1,HDHD5,ADA2
 
 krumm_15_ASD_discovery_cases-case14387.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 XKR3
 
 levy_11_ASD_discovery_cases-11257.p1
 
 
 Paternal
 Simplex
 Not segregated
 LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1
 
 mosrati_12_ASD/MR_discovery_cases-caseV6
 
 
 Unknown
 Multiplex
 Unknown
 POTEH,OR11H1
 
 pinto_10_ASD_discovery_cases-case2230_1
 qPCR, Affy 6.0
 
 paternal
 NA
 NA
 XKR3 exonic
 
 poultney_13_ASD_discovery_cases-case00HI1326A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 poultney_13_ASD_discovery_cases-case00HI1429B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 poultney_13_ASD_discovery_cases-case98HI0668A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 prasad_12_ASD_discovery_cases-case149491L
 
 
 Unknown
 Unknown
 Unknown
 CECR5-AS1,CECR5
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1036-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 POTEH-AS1,RNU6-816P,GRAMD4P2,POTEH,LINC01297,DUXAP8,BMS1P22,NBEAP3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1052-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1056-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 POTEH-AS1,RNU6-816P,GRAMD4P2,POTEH,LINC01297,DUXAP8,BMS1P22,NBEAP3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-004
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 CECR2
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CECR9,RN7SL843P,CECR2
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DUXAP8,BMS1P22,NBEAP3
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ADA2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023422_
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-control110036023489_
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-control110036025005_
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
 
 
  Unknown
 
 
  CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_900257_900257
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
 
 
  Unknown
 
 
  CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
 
 
  Unknown
 
 
  CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
 
 
  Unknown
 
 
  CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
 
 
  Unknown
 
 
  ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
girirajan_13b_ASD_discovery_controls-6106105636
 
 
  Unknown
 
 
  IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,GAB4
 
kanduri_15_ASD_discovery_controls-control_split386
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, BMS1P18(dist=506672)
 
kanduri_15_ASD_discovery_controls-control_split386
 
 
  Unknown
 
 
  CCT8L2,XKR3
 
krumm_15_ASD_discovery_controls-control13391.s1
  1M-Duov3
 
  Maternal
 
 
  XKR3
 
krumm_15_ASD_discovery_controls-control13924.s1
  Omni2.5-4v1
 
  Paternal
 
 
  CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
krumm_15_ASD_discovery_controls-control14271.s1
  Omni2.5-4v1
 
  Paternal
 
 
  XKR3
 
levy_11_ASD_discovery_controls-11257.s1
 
 
  Paternal
  Simplex
  NA
  LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1
 
levy_11_ASD_discovery_controls-12346.s1
 
 
  Paternal
  Simplex
  NA
  CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
poultney_13_ASD_discovery_controls-control04C37985A
 
 
  Unknown
 
 
  CCT8L2,FABP5P11,PARP4P3,LINC01665,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,TPTEP1,SLC25A15P5
 
poultney_13_ASD_discovery_controls-control05C44954
 
 
  Unknown
 
 
  CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,TPTEP1,SLC25A15P5
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NBEAP3
 
sanders_11_ASD_discovery_controls-12228.s1
 
 
  Both parents
  Simplex (quad)
  NA
  NBEAP3
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ADA2
 

No Animal Model Data Available
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