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22q13.2CNV Type: Deletion-Duplication


Largest CNV size: 108158 bp

Statistics Box:
Number of Reports: 15



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion...
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 133
 2
 0
 2
 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
 128838
 1
 2
 3
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 37762
 2
 0
 2
 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
 445112
 1
 2
 3
 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
 382352
 2
 0
 2
 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
 118416
 2
 2
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 51257
 6
 6
 12
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 42275
 1
 1
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 27846
 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)
 78365
 2
 2
 4
 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
 115929
 1
 1
 2
 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
 108158
 9
 15
 24
 simenson_13_ID/ASD/EP_discovery_cases
 Only child of healthy non-consanguineous parents presenting with features of Phelan-McDermid syndrome (intellectual disability, autistic behavior, epilepsy, and mild dysmorphic features)
 1
 Intellectual disability, autistic behavior, epilepsy, and mild dysmorphic features. Developmental level evaluated using Wechsler Intelligence Scale for Children (WISC-III), Griffiths Mental Development Scales and revised Autism Diagnostic Interview (ADI) completed by patient's mother.
 7.5 yrs.
 Male
 720000
 1
 0
 1
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 34600
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 38663
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 43374
 1
 0
 1
 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
 207656
 6
 5
 11
 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
 0
 0
 0
 0
 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
 6153
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 41485
 8
 3
 11
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 40210
 3
 0
 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
 47508
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 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)
 20545
 0
 1
 1
 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)
 115929
 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.
 
 78369
 9
 10
 19
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 38663
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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)
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 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
 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
 
 
 simenson_13_ID/ASD/EP_discovery_cases
  Estonia
 Solid phase hybridization
  Illumina HumanCytoSNP-12 BeadChip
 
 
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-caseAU3399302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 41178144
 41178276
  133
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU3399303
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 41178144
 41178276
  133
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14042_730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42392310
 42521148
  128839
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3378_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40819668
 40851239
  31572
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6180_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42358868
 42409889
  51022
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU084503
 
 
 Autism
 
 
 41792395
 41830156
  37762
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU084505
 
 
 Autism
 
 
 41795473
 41830156
  34684
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000897
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40860894
 41306006
  445113
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40860894
 41306006
  445113
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40832364
 41076954
  244591
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1920
 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.
 
 43122720
 43505071
  382352
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1991
 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.
 
 43172267
 43203137
  30871
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11654.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11654. SRS score of 89.
 Full-scale IQ (FSIQ) score of 40.
 42560185
 42566338
  6154
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11828.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11828. SRS score of 88.
 Full-scale IQ (FSIQ) score of 74.
 42385160
 42503576
  118417
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13116.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13116. SRS score of 90.
 Full-scale IQ (FSIQ) score of 35.
 42560185
 42566338
  6154
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13625.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13625. SRS score of 85.
 Full-scale IQ (FSIQ) score of 94.
 42560185
 42566338
  6154
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42560185
 42566338
  6154
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11653.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 41205362
 41230251
  24890
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11828.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42385160
 42432357
  47198
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12007.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42560185
 42566338
  6154
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12231.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42065737
 42068574
  2838
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12420.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42560185
 42566338
  6154
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12775.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42560185
 42566338
  6154
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13012.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 40770833
 40779125
  8293
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13688.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43128495
 43179752
  51258
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13984.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42799038
 42808890
  9853
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14076.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 41607800
 41658354
  50555
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14160.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42062826
 42068574
  5749
 GRCh38
 Duplication
 Yes
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 42508600
 42550874
  42275
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 42508600
 42547636
  39037
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-315-1
 
 
 ASD
 
 
 41107568
 41135413
  27846
 Unknown
 Deletion
 No
  poultney_13_ASD_discovery_cases-case01HI2165A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU084503; NDAR ID NDAR_INVEM293ETW)
 
 43068408
 43075588
  7181
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI2802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU067403; NDAR ID NDAR_INVMW859JCC)
 
 42512908
 42518149
  5242
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2908A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
 
 49190
 53134
  3945
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI3164A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0597302; NDAR ID NDAR_INVVY213RWC)
 
 42518003
 42596367
  78365
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case137573L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 41110915
 41226843
  115929
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case143178
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 39478866
 39494811
  15946
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 41795489
 41795904
  416
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11079.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
 42561282
 42569661
  8380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 42510298
 42554027
  43730
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 42533925
 42574509
  40585
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11235.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
 42510298
 42554027
  43730
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 51286
 57549
  6264
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 42510298
 42554027
  43730
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11391.p1
 15.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
 42510298
 42554027
  43730
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 48651
 57549
  8899
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11516.p1
 12.8
 M
 Aspergers
 NA
 Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
 42510298
 42554027
  43730
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 42561282
 42569661
  8380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11653.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
 41181960
 41231069
  49110
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 42643223
 42721592
  78370
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 42521148
 42554027
  32880
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11828.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
 42392310
 42500468
  108159
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 42510298
 42554027
  43730
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 48651
 57549
  8899
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 43118368
 43122816
  4449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 42521148
 42554027
  32880
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 41188347
 41210026
  21680
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 48651
 57549
  8899
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 42484955
 42536311
  51357
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12679.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 110; verbal IQ, 93
 43709896
 43718981
  9086
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 48651
 53049
  4399
 GRCh38
 Deletion
 No
  simenson_13_ID/ASD/EP_discovery_cases-case1
 7.5 yrs.
 M
 ID and autistic features
 Birth/neonatal history: born after uneventful pregnancy at term by planned C-section (due to maternal age, at birth 43-year-old); birth weight of 3900g, Apgar score 9; patient spent 7 days after birth in neonatal care unit due to hyperbilirubinaemia and received phototherapy. Developmental milestones: started to walk at 12 months; spasticity and speech delay noticed on second year of life. Motor and musculoskeletal evaluation: brachydactyly, clinodactyly of 5th fingers, wide T1, syndactyly of the T2-3, clinodactyly of T4-5, excessive lumbar lordosis, hypermobile joints, slightly elevated muscle tone (right side > left side) with exaggerated deep tendon reflexes, occasional toe-walking and overall motor clumsiness with remarkable deficiency in fine motor skills (absent pincer grasp). Behavioral/psychiatric evaluation: evaluation with Autism Diagnostic Interview (ADI, completed by patient's mother), but no formal diagnosis of ASD reported; autistic behavior and occasional aggressiveness became evident in kindergarten; hospitalized at age of 4 years 11 months for investigations due to speech problems and behavioral disturbances (hyperactivity, stubbornness, occasional aggression, bouts of screaming, daytime wetting and defecation); treatment with carbamazepine resulted in improved behavior and reduced daytime pant-wetting accidents. Epilepsy/seizures: focal epilepsy diagnosed at age of 4 years 11 months, treatment with carbamazepine started at this time. EEG: awake and sleep EEG showed focal epileptiform discharges bilaterally from occipital areas, with spikes and spike-waves more frequent when asleep, at age of 4 years 11 months; EEG at age of 7 years revealed monotonous slow background activity with multifocal and generalized paroxysmal epileptiform discharges present when awake and asleep. Brain imaging: brain MRI revealed right temporal choroidal fissure cyst and white matter signal hyperintensities on T2 images in left frontal periventricular area at age of 4 years 11 months, follow-up MRI at age of 7 years showed resolved previously observed white matter lesions; brain MRS at age of 4 years 11 months showed elevated choline peak from left parietal lobe white matter (probable delayed myelination), normal choline levels observed at age of 7 years. Recurrent infections: two episodes of bronchitis and an additional episode with enlargement of lymph nodes; suffered from staphylococcal furunculosis complicated by inguinal pustular lymphadenitis, which resolved quickly after antibiotic treatment. Other features: elevated levels of immunoglobin E (IgE) and blood eosinophil detected at age of 5 years 11 months with subsequent aggravation of urticarial rash (medium allergy to cow milk and coconut, high allergy to wheat and tomato determined by skin prick tests at this time); laboratory investigations at age of 7 years showed elevated eosinophil, IgM, and IgE counts. Dysmorphic features: slight facial asymmetry, bilateral ptosis with puffy eyelids, bulbous nasal tip, high palate, short lingual frenulum, relatively large and dysmorphic ears, increased salivation, urticarial rash. Growth parameters: height of 128.5 cm (+1 SD), weight of 24.5 kg (0 SD), and head circumference of 53 cm (0 SD) at age of 7 years; height of 114.5 cm (+1 SD), weight of 20.5 kg (+1 SD) and head circumference of 52 cm (0 SD) at age of 4 years 11 months. Family history: only child of healthy non-consanguineous parents; both parents have healthy children from previous marriages.
 Mild-to-moderate ID; developmental level evaluated using Wechsler Intelligence Scale for Children (WISC-III) and the Griffiths Mental Development Scales at age of 5 years 11 months. Mental development (as measured by Leiter scale) at age of 4 years 11 months determined to be 3.5 years.
 41800463
 42521148
  720686
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family9_Twin_2
  NA NA
 N/A
 N/A
 NDD
 Case is from a monozygotic twin pair from the Concordant NDD diagnostic group
 
 40861127
 40895726
  34600
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case628
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 42559770
 42570410
  10641
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case629
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 43678303
 43716965
  38663
 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
  brandler_18_ASD_discovery_controls-controlSSC10384
  N/A
  M
  Control
  Control from SSC_phase1 cohort
 
  41614714
  41658088
  43375
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB334576_1007843533
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42452348
  42516716
  64369
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB352015_1007874446
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42783160
  42990816
  207657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB829071_1007853943
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42574509
  64212
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42484955
  42554027
  69073
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42554027
  43730
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42397557
  42500468
  102912
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42554027
  43730
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900917_900917
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42554027
  43730
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42554027
  43730
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42521148
  42575993
  54846
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42510298
  42554027
  43730
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control13625.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13625. SRS score of 42.
 
  42560185
  42566338
  6154
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11316.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42587572
  27388
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11360.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12083.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  41784338
  41825823
  41486
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12367.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12478.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12526.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12582.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12610.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560175
  42571214
  11040
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12850.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12853.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  42560185
  42566338
  6154
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14076.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  41620745
  41657034
  36290
  GRCh38
  Deletion
  Yes
  leblond_19_ASD_discovery_controls-controlPN400248
  N/A
  F
  Control
  Non-autism control
 
  42090599
  42122512
  31914
  GRCh38
  Deletion
  No
  leblond_19_ASD_discovery_controls-siblingPN400186
  N/A
  M
  Control
  Unaffected sibling of an ASD case
 
  42090599
  42122512
  31914
  GRCh38
  Deletion
  No
  leblond_19_ASD_discovery_controls-siblingPN400240
  N/A
  F
  Control
  Unaffected sibling of an ASD case
 
  42090599
  42122512
  31914
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-12083.s1
  NA
  F
  Control
  NA
  NA
  41782669
  41830176
  47508
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C45836
  N/A
  M
  Control
  NIMH Control (NIMH ID 26071)
 
  42070280
  42090824
  20545
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11235.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  43098725
  43104206
  5482
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11235.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  42510298
  42575993
  65696
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  48651
  57549
  8899
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  43590261
  43594953
  4693
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11346.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  42510298
  42554027
  43730
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11590.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  42561282
  42569661
  8380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  51990
  57549
  5560
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11694.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  42643223
  42721592
  78370
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  42510298
  42554027
  43730
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  41781812
  41822852
  41041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  48651
  57549
  8899
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  43118368
  43122816
  4449
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  48651
  57549
  8899
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12343.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  42510298
  42554027
  43730
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12390.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  40978676
  40989513
  10838
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  42484955
  42533925
  48971
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12655.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  40531
  57549
  17019
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  48651
  57549
  8899
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  42521148
  42554027
  32880
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseAU3399302
 No validation step reported
 
 Paternal
 
 
 EP300-AS1,EP300
 
 brandler_18_ASD_replication_cases-caseAU3399303
 No validation step reported
 
 Paternal
 
 
 EP300-AS1,EP300
 
 engchuan_15_ASD_discovery_cases-case14042_730
 
 
 Unknown
 
 
 SERHL,NFAM1,RRP7A
 
 engchuan_15_ASD_discovery_cases-case3378_4
 
 
 Unknown
 
 
 ST13
 
 engchuan_15_ASD_discovery_cases-case6180_4
 
 
 Unknown
 
 
 LINC01315,NFAM1
 
 gai_11_ASD_replication_cases-AU084503
 
 
 Inherited
 
 
 TTLL1
 
 gai_11_ASD_replication_cases-AU084505
 
 
 Inherited
 
 
 TTLL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000897
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-379P,MIR1281,RNU6-375P,LRRC37A14P,MIR6889,DNAJB7,RBX1,EP300-AS1,L3MBTL2,CHADL,RANGAP1,ZC3H7B,EP300,XPNPEP3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-379P,MIR1281,RNU6-375P,LRRC37A14P,MIR6889,DNAJB7,RBX1,EP300-AS1,L3MBTL2,CHADL,RANGAP1,ZC3H7B,EP300,XPNPEP3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU6-379P,ST13,DNAJB7,RBX1,XPNPEP3
 
 kanduri_15_ASD_discovery_cases-case1920
 
 
 Paternal
 Unknown
 Unknown
 ARFGAP3,PACSIN2,TTLL1
 
 kanduri_15_ASD_discovery_cases-case1991
 
 
 Maternal
 Unknown
 Unknown
 ARFGAP3
 
 krumm_13_ASD_discovery_cases-case11654.p1
 
 
 Paternal
 Simplex
 Not segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_13_ASD_discovery_cases-case11828.p1
 Solid phase hybridization (Illumina 1M)
 
 Maternal
 Simplex
 Segregated
 SERHL,NFAM1
 
 krumm_13_ASD_discovery_cases-case13116.p1
 
 
 Paternal
 Simplex
 Not segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_13_ASD_discovery_cases-case13625.p1
 
 
 Paternal
 Simplex
 Not segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_15_ASD_discovery_cases-case11391.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_15_ASD_discovery_cases-case11653.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 L3MBTL2,CHADL
 
 krumm_15_ASD_discovery_cases-case11828.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 NFAM1
 
 krumm_15_ASD_discovery_cases-case12007.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_15_ASD_discovery_cases-case12231.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 NAGA
 
 krumm_15_ASD_discovery_cases-case12420.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_15_ASD_discovery_cases-case12775.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 RN7SKP80,SERHL2,RRP7BP
 
 krumm_15_ASD_discovery_cases-case13012.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SLC25A17
 
 krumm_15_ASD_discovery_cases-case13688.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MCAT,TSPO,TTLL12,BIK
 
 krumm_15_ASD_discovery_cases-case13984.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ARFGAP3
 
 krumm_15_ASD_discovery_cases-case14076.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 DESI1,XRCC6
 
 krumm_15_ASD_discovery_cases-case14160.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 NAGA
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 SERHL,RRP7A
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 SERHL,RRP7A
 
 nord_11_ASD_discovery_cases-315-1
 
 
 Paternal
 
 
 NFAM1
 
 poultney_13_ASD_discovery_cases-case01HI2165A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TTLL1
 
 poultney_13_ASD_discovery_cases-case04HI2802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RRP7A
 
 poultney_13_ASD_discovery_cases-case04HI2908A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 
 
 poultney_13_ASD_discovery_cases-case04HI3164A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP,POLDIP3
 
 prasad_12_ASD_discovery_cases-case137573L
 
 
 Unknown
 Unknown
 Unknown
 NFAM1,SERHL
 
 prasad_12_ASD_discovery_cases-case143178
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MEI1
 
 sanders_11_ASD_discovery_cases-11079.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
 sanders_11_ASD_discovery_cases-11235.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-11391.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11516.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
 sanders_11_ASD_discovery_cases-11653.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LRRC37A14P,EP300-AS1,L3MBTL2,CHADL
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYB5R3,A4GALT
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SERHL2
 
 sanders_11_ASD_discovery_cases-11828.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NFAM1
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SERHL,RRP7A,SERHL2
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BIK
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SERHL2
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LRRC37A14P,EP300-AS1,L3MBTL2
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SERHL,RRP7A
 
 sanders_11_ASD_discovery_cases-12679.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 EFCAB6
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 simenson_13_ID/ASD/EP_discovery_cases-case1
 
 
 De novo
 Simplex
 Likely segregated
 SREBF2-AS1,MIR33A,MIR378I,LINC00634,SLC25A5P1,NAGA,PHETA2,SNORD13P1,SMDT1,OLA1P1,CYP2D6,CYP2D7,CYP2D8P,SERHL,SREBF2,SHISA8,TNFRSF13C,SEPT3,WBP2NL,NDUFA6,NDUFA6-DT,OGFRP1,LINC01315,NFAM1,RRP7A,CCDC134,TCF20,CENPM
 
 stamouli_18_ASD/NDD_discovery_cases-family9_Twin_2
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected twin)
 DNAJB7,XPNPEP3
 
 yin_16_ASD_discovery_cases-case628
 
 
 Unknown
 Unknown
 Unknown
 RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
 yin_16_ASD_discovery_cases-case629
 
 
 Unknown
 Unknown
 Unknown
 EFCAB6
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC10384
  PCR or SNP data validation
 
  Maternal
 
 
  DESI1,XRCC6
 
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
 
 
  Unknown
 
 
  SERHL,RRP7A
 
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
 
 
  Unknown
 
 
  GOLGA2P4,ARFGAP3,PACSIN2
 
engchuan_15_ASD_discovery_controls-controlB829071_1007853943
 
 
  Unknown
 
 
  SERHL,RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP
 
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
 
 
  Unknown
 
 
  NFAM1
 
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900917_900917
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
 
 
  Unknown
 
 
  RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
 
 
  Unknown
 
 
  SERHL,RRP7A,SERHL2
 
krumm_13_ASD_discovery_controls-control13625.s1
 
 
  Paternal
  Simplex
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control11316.s1
  Illumina 1M
 
  Paternal
 
 
  RN7SKP80,RNU6-513P,SERHL2,RRP7BP,POLDIP3
 
krumm_15_ASD_discovery_controls-control11360.s1
  Illumina 1M
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12083.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MEI1,CCDC134
 
krumm_15_ASD_discovery_controls-control12367.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12478.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12526.s1
  1M-Duov3
 
  Maternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12582.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12610.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12850.s1
  1M-Duov3
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control12853.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RN7SKP80,SERHL2,RRP7BP
 
krumm_15_ASD_discovery_controls-control14076.s1
  Omni2.5-4v1
 
  Maternal
 
 
  DESI1,XRCC6
 
leblond_19_ASD_discovery_controls-controlPN400248
 
 
  Unknown
 
 
  OLA1P1,NDUFA6,NDUFA6-DT
 
leblond_19_ASD_discovery_controls-siblingPN400186
 
 
  Unknown
 
 
  OLA1P1,NDUFA6,NDUFA6-DT
 
leblond_19_ASD_discovery_controls-siblingPN400240
 
 
  Unknown
 
 
  OLA1P1,NDUFA6,NDUFA6-DT
 
levy_11_ASD_discovery_controls-12083.s1
 
 
  Paternal
  Simplex
  NA
  MEI1,CCDC134
 
poultney_13_ASD_discovery_controls-control05C45836
 
 
  Unknown
 
 
  NAGA,PHETA2,SNORD13P1,SMDT1,NDUFA6
 
sanders_11_ASD_discovery_controls-11235.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11235.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SERHL,RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Paternal
  Simplex (quad)
  NA
  EFCAB6
 
sanders_11_ASD_discovery_controls-11346.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SERHL,RRP7A,SERHL2
 
sanders_11_ASD_discovery_controls-11590.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SKP80,RNU6-513P,SERHL2,RRP7BP
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11694.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYB5R3,A4GALT
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SERHL,RRP7A,SERHL2
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MEI1,CCDC134
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BIK
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12343.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SERHL,RRP7A,SERHL2
 
sanders_11_ASD_discovery_controls-12390.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SERHL,RRP7A
 
sanders_11_ASD_discovery_controls-12655.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SERHL2
 

No Animal Model Data Available
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