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5q12.1CNV Type: Deletion-Duplication


Largest CNV size: 810000 bp

Statistics Box:
Number of Reports: 15


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion
NA
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-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
 6582
 1
 0
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 810000
 1
 1
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 541000
 1
 1
 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
 683723
 4
 21
 25
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 836718
 1
 1
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 699000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 511671
 2
 0
 2
 kousoulidou_13_ASD_discovery_cases
 Cypriot patients with ASD or autistic features
 50
 Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
 Range, 3-18 yrs.
 90% Male
 304870
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 47541
 1
 0
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 900000
 1
 2
 3
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 106049
 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
 
 
 57594
 0
 3
 3
 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)
 285561
 1
 2
 3
 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
 110252
 11
 5
 16
 vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
 Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
 3
 All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
 Range, 11-21 yrs.
 66.67% Male
 56000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 810000
 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
 85969
 5
 26
 31
 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
 0
 0
 0
 0
 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
 27044
 0
 1
 1
 kousoulidou_13_ASD_discovery_controls
 Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
 130
 Controls
 N/A
 N/A
 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
 47541
 2
 0
 2
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 500000
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 106049
 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.
 
 347365
 2
 0
 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)
 0
 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.
 
 117553
 6
 4
 10

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
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
 
 None
 kousoulidou_13_ASD_discovery_cases
  Cyprus
 aCGH
  Agilent 400K custom array-CGH
 
 Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 qPCR
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 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
 
 
 vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
  Spain
 aCGH
  Agilent 400K
 
 Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
 MLPA

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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
 
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kousoulidou_13_ASD_discovery_controls
  Cyprus
  aCGH
  Agilent 400K custom array-CGH
 
  Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  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
 
 
  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
  brandler_18_ASD_replication_cases-case2-1177-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 62307839
 62314420
  6582
 GRCh38
 Deletion
 No
  christian_08_ASD_discovery_cases-AU029303
 NA
 M
 ASD
 NA
 NA
 60795279
 61371101
  575823
 GRCh38
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU0994301
 NA
 F
 ASD
 NA
 NA
 62797925
 63607590
  809666
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_285092
  NA NA
 N/A
 F
 Developmental delay
 Abnormal heart morphology, congenital microcephaly, delayed speech and language development, global developmental delay, hypothyroidism, pulmonary hypoplasia, short stature. Mother was affected with a similar or milder phenotype.
 
 62009243
 62550469
  541227
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300102
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus incorrectly reported as 5q21.1 in original report
 
 60443200
 60617328
  174129
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13042_513
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14306_3410
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62132310
 62182850
  50541
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case17023_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60608144
 60770242
  162099
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20113_1543001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20184_1708001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2184_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2236_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60477784
  59482
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2292_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3145_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60409172
 60477784
  68613
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3174_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3563_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60463830
  45528
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4250_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4358_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4418_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62132310
 62172224
  39915
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4425_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4433_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62558823
 62853193
  294371
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4441_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60820786
 61504509
  683724
 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)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5096_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5329_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62132310
 62172224
  39915
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5371_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5542_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6053_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8654_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62368212
 62625988
  257777
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8723_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60427055
 60469264
  42210
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU0994301
 
 
 Autism
 
 
 62060235
 62896952
  836718
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1145302
 
 
 Autism
 
 
 61566668
 62062829
  496162
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU029303
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 60808416
 61508416
  700001
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-21707108167
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 63331497
 63635717
  304221
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-46805104136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 59982516
 60494187
  511672
 GRCh38
 Deletion
 No
  kousoulidou_13_ASD_discovery_cases-patient3
 N/A
 M
 DD and autistic features
 Autistic features, dysmorphic features
 Developmental delay
 62553607
 62858480
  304874
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11512.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 60874614
 60922155
  47542
 GRCh38
 Deletion
 Yes
  leppa_16_ASD_discovery_cases-AU029303
 N/A
 M
 ASD
 
 
 60821173
 61485173
  664001
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU0994301
 N/A
 F
 ASD
 
 
 62728173
 63625173
  897001
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU1145302
 N/A
 M
 ASD
 
 
 62235173
 62731173
  496001
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11512.p1
 NA
 M
 ASD
 NA
 NA
 60823762
 60929810
  106049
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5096_4
 NA
 M
 ASD
 NA
 NA
 60418303
 60475896
  57594
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5371_3
 NA
 M
 ASD
 NA
 NA
 60418303
 60475896
  57594
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5542_3
 NA
 M
 ASD
 NA
 NA
 60418303
 60475896
  57594
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case04HI3080A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1145302; NDAR ID NDAR_INVED236ETC)
 
 62347130
 62627320
  280191
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3791A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU0862303; NDAR ID NDAR_INVEE164TJX)
 
 60887438
 60904875
  17438
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0525B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU029303; NDAR ID NDAR_INVPD055HEP)
 
 60874613
 61160173
  285561
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11004.p1
 15.8
 M
 ASD
 NA
 Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11142.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
 63496874
 63529285
  32412
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 60951988
 60991135
  39148
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11194.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11274.p1
 11.6
 F
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11512.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
 60823910
 60934162
  110253
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11550.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
 60951988
 60977163
  25176
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11581.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11609.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 60418303
 60463830
  45528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 60194280
 60196284
  2005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12613.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
 60418303
 60488415
  70113
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 60418303
 60475896
  57594
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13135.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 90; verbal IQ, 69
 62132310
 62172224
  39915
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 62711860
 62752182
  40323
 GRCh38
 Duplication
 No
  vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case1
 21 yrs.
 F
 Bipolar disorder and intellectual disability
 Diagnosis of bipolar disorder. Birth/neonatal history: uneventful pregnancy, born full-term with birth weight of 3640 g and length of 52 cm; no congenital abnormalities or feeding difficulties observed. Developmental milestones: started to walk at 14 months of age. Language and communication evaluation: difficulties in language acquisition; average language scores. Motor and musculoskeletal evaluation: dorsal kyphosis, long hand with slender and flexible fingers. Behavioral/psychiatric evaluation: behavioral profile characterized by inappropriate reactiond to frustration, which translated to refusal to follow directions, requests, or orders' performance on ADOS not indicative of ASD or autism. Epilepsy/seizures: febrile seizures until age of 2 years, childhood absence epilepsy from 5 to 7 years of age. Dysmorphic features: long face, deep set eyes, hypotelorism, low set ears, prominent premaxilla, high narrow palate, tooth malposition. Growth parameters: height 97th %ile, weight 97th %ile, OFC of 56.5 cm (+1 SD). Family history: only child of non-consanguineous parents with psychiatric and cognitive results within normal range.
 Mild intellectual disability (IQ of 65)
 60420085
 60475690
  55606
 GRCh38
 Duplication
 Yes

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-control110036004554_r
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60477784
  59482
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB254070_1007852661
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59895272
  59965602
  70331
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB275079_1007852942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB470554_1007842173
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB482489_1007872861
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB555358_1007873337
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB595540_1007848526
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB630497_1007872229
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60413925
  60481734
  67810
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB701542_1007873365
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB747096_1007854180
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB763377_1007853322
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB811881_1007870375
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62132310
  62172224
  39915
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB887823_1007874701
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60477784
  59482
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB904265_1007873471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB951657_1007843871
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB968534_1007842350
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60467572
  49270
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60436787
  60475896
  39110
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900419_900419
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60467572
  49270
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60469264
  50962
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900489_900489
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60905166
  60991135
  85970
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900918_900918
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60467572
  49270
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60463830
  45528
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901131_901131
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60413925
  60469264
  55340
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902565_902565
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62132310
  62172224
  39915
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902657_902657
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62132310
  62172224
  39915
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902689_902689
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split241
  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
 
  59732614
  59759657
  27044
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  60874614
  60922155
  47542
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14165.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  60754623
  60787397
  32775
  GRCh38
  Deletion
  Yes
  leppa_16_ASD_discovery_controls-AU1145303
  N/A
  F
  Control
  Unaffected sibling
 
  62235173
  62731173
  496001
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11512.s1
  NA
  F
  Control
  NA
  NA
  60823762
  60929810
  106049
  GRCh38
  Deletion
  No
  nord_11_ASD_discovery_controls-04C27572
 
 
  Control
 
 
  59122126
  59175551
  53426
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C27962
 
 
  Control
 
 
  59675103
  60022467
  347365
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  60194280
  60196284
  2005
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11435.s1
  23.3
  M
  Control (matched sibling)
  NA
  NA
  60418303
  60463830
  45528
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  60194280
  60196284
  2005
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11512.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  60820786
  60938339
  117554
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  60951988
  60977163
  25176
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  60194280
  60196284
  2005
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12185.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12613.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  60418303
  60475896
  57594
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13135.s1
  17.1
  M
  Control (matched sibling)
  NA
  NA
  62132310
  62172224
  39915
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case2-1177-003
 No validation step reported
 
 Maternal
 
 
 KIF2A
 
 christian_08_ASD_discovery_cases-AU029303
 FISH, microsatellite, qPCR
 
 inherited
 Multiplex
 NA
 GNL3LP1,ERCC8,SMIM15,NDUFAF2,SMIM15-AS1,LINC02057,ZSWIM6,ELOVL7
 
 christian_08_ASD_discovery_cases-AU0994301
 FISH, microsatellite, qPCR
 
 inherited
 Multiplex
 NA
 
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_285092
 qPCR
 Maternal
 Maternal
 Multi-generational
 
 RN7SKP157,RNU6-661P,CKS1BP3,KIF2A,DIMT1,IPO11
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300102
 
 
 Unknown
 
 
 SETP21,PART1,DEPDC1B,PDE4D
 
 engchuan_15_ASD_discovery_cases-case13042_513
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case14306_3410
 
 
 Unknown
 
 
 RN7SKP157
 
 engchuan_15_ASD_discovery_cases-case17023_1
 
 
 Unknown
 
 
 CAB39P1,KRT8P31,DEPDC1B,ELOVL7
 
 engchuan_15_ASD_discovery_cases-case20113_1543001
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case20184_1708001
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case2184_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case2236_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case2292_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case3145_3
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case3174_3
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case3563_4
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case4250_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case4358_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case4418_1
 
 
 Unknown
 
 
 RN7SKP157
 
 engchuan_15_ASD_discovery_cases-case4425_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case4433_1
 
 
 Unknown
 
 
 LRRC70,ISCA1P1,IPO11
 
 engchuan_15_ASD_discovery_cases-case4441_1
 
 
 Unknown
 
 
 GNL3LP1,ERCC8,SMIM15,RPL3P6,NDUFAF2,SMIM15-AS1,LINC02057,ZSWIM6,ELOVL7
 
 engchuan_15_ASD_discovery_cases-case4459_1
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case5096_4
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case5329_3
 
 
 Unknown
 
 
 RN7SKP157
 
 engchuan_15_ASD_discovery_cases-case5371_3
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case5542_3
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case6053_3
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 engchuan_15_ASD_discovery_cases-case8654_201
 
 
 Unknown
 
 
 RNU6-661P,CKS1BP3,LRRC70,KIF2A,DIMT1,IPO11
 
 engchuan_15_ASD_discovery_cases-case8723_201
 
 
 Unknown
 
 
 SETP21,PDE4D
 
 gai_11_ASD_discovery_cases-AU0994301
 
 
 Inherited
 
 
 ISCA1L
 
 gai_11_ASD_discovery_cases-AU1145302
 
 
 Inherited
 
 
 KIF2A, DIMT1L, IPO11, LRRC70
 
 girirajan_13a_ASD_discovery_cases-AU029303
 
 
 Unknown
 Multiplex
 Unknown
 GNL3LP1,ERCC8,SMIM15,RPL3P6,NDUFAF2,SMIM15-AS1,LINC02057,ZSWIM6,ELOVL7
 
 girirajan_13b_ASD_discovery_cases-21707108167
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-46805104136
 
 
 Unknown
 Unknown
 Unknown
 RNU6-806P,SETP21,PART1,PDE4D
 
 kousoulidou_13_ASD_discovery_cases-patient3
 qPCR
 
 Paternal
 Unknown
 Unknown
 LRRC70,ISCA1P1,IPO11
 
 krumm_15_ASD_discovery_cases-case11512.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GNL3LP1,ERCC8
 
 leppa_16_ASD_discovery_cases-AU029303
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 GNL3LP1,ERCC8,SMIM15,RPL3P6,NDUFAF2,SMIM15-AS1,LINC02057,ZSWIM6,ELOVL7
 
 leppa_16_ASD_discovery_cases-AU0994301
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 ISCA1P1
 
 leppa_16_ASD_discovery_cases-AU1145302
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU1145303)
 RNU6-661P,CKS1BP3,LRRC70,KIF2A,DIMT1,IPO11
 
 levy_11_ASD_discovery_cases-11512.p1
 
 
 Maternal
 Simplex
 Not segregated
 GNL3LP1,ERCC8,ELOVL7
 
 pinto_10_ASD_discovery_cases-case5096_4
 Agilent1M
 
 maternal
 NA
 NA
 SETP21,PDE4D
 
 pinto_10_ASD_discovery_cases-case5371_3
 Agilent1M
 
 paternal
 NA
 NA
 SETP21,PDE4D
 
 pinto_10_ASD_discovery_cases-case5542_3
 Agilent1M
 
 maternal
 NA
 NA
 SETP21,PDE4D
 
 poultney_13_ASD_discovery_cases-case04HI3080A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-661P,CKS1BP3,LRRC70,KIF2A,DIMT1,IPO11
 
 poultney_13_ASD_discovery_cases-case05HI3791A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 GNL3LP1,ERCC8
 
 poultney_13_ASD_discovery_cases-case98HI0525B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 GNL3LP1,ERCC8,SMIM15,NDUFAF2
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-11142.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFAF2
 
 sanders_11_ASD_discovery_cases-11194.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-11274.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-11512.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GNL3LP1,ERCC8,ELOVL7
 
 sanders_11_ASD_discovery_cases-11550.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFAF2
 
 sanders_11_ASD_discovery_cases-11581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-11609.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SETP21,PDE4D
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SETP21,PDE4D
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PDE4D
 
 sanders_11_ASD_discovery_cases-12613.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SETP21,PART1,PDE4D
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SETP21,PDE4D
 
 sanders_11_ASD_discovery_cases-13135.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SKP157
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case1
 MLPA
 
 Paternal
 Simplex
 Unknown
 SETP21,PDE4D
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036004554_r
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB254070_1007852661
 
 
  Unknown
 
 
  PDE4D
 
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB470554_1007842173
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB482489_1007872861
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB555358_1007873337
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB595540_1007848526
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB630497_1007872229
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB701542_1007873365
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB763377_1007853322
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
 
 
  Unknown
 
 
  RN7SKP157
 
engchuan_15_ASD_discovery_controls-controlB887823_1007874701
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlB968534_1007842350
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900419_900419
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_900489_900489
 
 
  Unknown
 
 
  ERCC8,NDUFAF2
 
engchuan_15_ASD_discovery_controls-controlHABC_900918_900918
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_901131_901131
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
 
 
  Unknown
 
 
  SETP21,PDE4D
 
engchuan_15_ASD_discovery_controls-controlHABC_902565_902565
 
 
  Unknown
 
 
  RN7SKP157
 
engchuan_15_ASD_discovery_controls-controlHABC_902657_902657
 
 
  Unknown
 
 
  RN7SKP157
 
engchuan_15_ASD_discovery_controls-controlHABC_902689_902689
 
 
  Unknown
 
 
  SETP21,PDE4D
 
kanduri_15_ASD_discovery_controls-control_split241
 
 
  Unknown
 
 
  PDE4D (intronic)
 
krumm_15_ASD_discovery_controls-control11512.s1
  Illumina 1M
 
  Maternal
 
 
  GNL3LP1,ERCC8
 
krumm_15_ASD_discovery_controls-control14165.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ELOVL7
 
leppa_16_ASD_discovery_controls-AU1145303
 
 
  Maternal
  Multiplex
 
  RNU6-661P,CKS1BP3,LRRC70,KIF2A,DIMT1,IPO11
 
levy_11_ASD_discovery_controls-11512.s1
 
 
  Maternal
  Simplex
  NA
  GNL3LP1,ERCC8,ELOVL7
 
nord_11_ASD_discovery_controls-04C27572
 
 
 
 
 
  PDE4D
 
nord_11_ASD_discovery_controls-04C27962
 
 
 
 
 
  PART1,PDE4D,DEPDC1B
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PDE4D
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SETP21,PDE4D
 
sanders_11_ASD_discovery_controls-11435.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SETP21,PDE4D
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PDE4D
 
sanders_11_ASD_discovery_controls-11512.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GNL3LP1,ERCC8,ELOVL7
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFAF2
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PDE4D
 
sanders_11_ASD_discovery_controls-12185.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SETP21,PDE4D
 
sanders_11_ASD_discovery_controls-12613.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SETP21,PDE4D
 
sanders_11_ASD_discovery_controls-13135.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SKP157
 

No Animal Model Data Available
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