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2p16.1CNV Type: Deletion-Duplication


Largest CNV size: 80266 bp

Statistics Box:
Number of Reports: 20


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
De novo microdeletion of BCL11A is associated with severe speech sound disorder.
Deletion
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
Deletion
Brain malformations in a patient with deletion 2p16.1: A refinement ofthe phenotype to BCL11A.
Deletion
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Deletion
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes 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.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bagheri_16_DD/ID_discovery_cases
 Eight novel cases with 2p16.1-p15 microdeletion syndrome
 8
 All eight cases presented with developmental delay (7/8 with intellectual disability, 7/8 with delayed language skills, 6/8 with microcephaly)
 Range, 1 yr. 8 mos.-16 yrs.
 87.50% Male
 2012590
 3
 0
 3
 balci_15_DD_discovery_cases
 Product of a dizygotic twin pregnancy of a non-consanguineous couple achieved by in vitro fertilization
 1
 Developmental delay, dysmorphic features, and brain malformations detected by MRI
 3 yrs.
 Female
 875000
 1
 0
 1
 basak_15_ASD/DD_discovery_cases
 Three cases with 2p16.1 microdeletions containing the BCL11A gene (Boston Children's Hospital, Charles University in Prageu, and University of Ottawa)
 3
 All three cases presented with ASD (diagnostic tools N/A), moderate-to-severe developmental delay, hypotonia, and recurrent facial dysmorphic features
 Range, 3.5-14 yrs.
 N/A
 1000000
 3
 0
 3
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 33900
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 1196000
 0
 1
 1
 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
 810000
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 105365
 4
 4
 8
 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
 
 
 123769
 3
 0
 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
 
 
 128658
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 646061
 0
 1
 1
 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
 33992
 0
 2
 2
 levy_17_DD_discovery_cases
 Three individuals with deletions within the 2p16.1-p15 region: two with 2p15 deletions involving the XPO1 gene, and one with a 2p16.1 deletion involving the BCL11A gene
 3
 Two individuals presented with developmental delay and behavioral problems/autistic features; the third presented with dysmorphic features and structural brain abnormalities (terminated pregnancy)
 Range, 36 weeks gestation-7 years
 66.67% Male
 427000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 79000
 2
 0
 2
 peter_14_DD/CAS_discovery_cases
 11-year-old male proband with several developmental delays not present in his parents or older brother
 1
 Diagnosis of childhood apraxia of speech (CAS) made at age of 2 years 11 months; case also presented with dysarthria, general oral and motor dyspraxia, hypotonia, and expressive language and mild intellecual delays.
 11 years
 Male
 203000
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 30045
 1
 0
 1
 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
 85719
 0
 2
 2
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 38873
 1
 0
 1
 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
 79208
 70
 21
 91
 sebat_07_ASD_discovery_cases
 118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
 195
 Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
 
 
 2786284
 0
 0
 0
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 80266
 0
 1
 1
 wang_18_TS_replication_cases
 Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
 120
 Probands diagnosed with Tourette syndrome
 N/A
 N/A
 273499
 1
 0
 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
 1196181
 0
 1
 1

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
 33900
 1
 0
 1
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 194930
 7
 7
 14
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 1554008
 0
 1
 1
 itsara_10_ASD_discovery_controls_2
 Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
 386
 Children with mild-to-moderate asthma
 Range, 5-17 yrs.
 
 158513
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 338822
 0
 3
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 4603
 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
 23814
 0
 1
 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.
 
 115762
 1
 0
 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)
 85719
 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.
 
 145484
 46
 16
 62
 sebat_07_ASD_discovery_controls
 Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
 196
 Controls
 
 
 2786284
 0
 1
 1
 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
 1196181
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bagheri_16_DD/ID_discovery_cases
  N/A
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix Cytogenetics Whole-Genome 2.7M, Affymetrix 6.0, Signature Genomics SignatureChipOSTM
 
 
 QMPSF
 balci_15_DD_discovery_cases
  Northern European
 aCGH
  Agilent 4x180K
 
 OGT Cytosure Interpret
 FISH
 basak_15_ASD/DD_discovery_cases
  USA, Czech Republic, and Canada
 Solid phase hybridization
  Human CytoSNP-12 BeadChips (Illumina)
 
 
 FISH
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-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
 None
 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
 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
 levy_17_DD_discovery_cases
  France
 Solid phase hybridization
  Illumina CytoSNP-12
 CNVPartition
 Illumina GenomeStudio
 qPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 peter_14_DD/CAS_discovery_cases
  Caucasian
 aCGH
  EmArray Cyto6000, Version 2 (Emory Univ.)
 
 
 FISH
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sebat_07_ASD_discovery_cases
 
 ROMA
 
 HMM
 S-PLUS
 
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 Inheritance
 wang_18_TS_replication_cases
  N/A
 Exome Array
  Illumina HumanOmniExpressExome-8 v.1
 PennCNV
 Illumina GenomeStudio, PennCNV
 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
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
  qPCR
  itsara_10_ASD_discovery_controls_2
  Hispanic/Mexican
  Solid phase hybridization
  Illumina HumanHap550 SNP array
  HMM
  Illumina GenomeStudio
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  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
 
 
  sebat_07_ASD_discovery_controls
 
  ROMA
 
  HMM
  S-PLUS
  390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
  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
  bagheri_16_DD/ID_discovery_cases-case2
 1 yr. 8 mos.
 M
 Developmental delay
 Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; metatarsus adductus. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: none reported. Dysmorphic features: metopic prominence or craniosynostosis, abnormal head shape, downslanting palpebral fissures, ptosis, telecanthus, long and straight eyelashes, abnormal nasal root (broad/high or other), large ears, high narrow palate. Growth parameters: microcephaly; OFC <3rd %ile.
 Developmental delay
 60473544
 60490534
  16991
 GRCh38
 Deletion
 Yes
  bagheri_16_DD/ID_discovery_cases-case2
 1 yr. 8 mos.
 M
 Developmental delay
 Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; metatarsus adductus. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: none reported. Dysmorphic features: metopic prominence or craniosynostosis, abnormal head shape, downslanting palpebral fissures, ptosis, telecanthus, long and straight eyelashes, abnormal nasal root (broad/high or other), large ears, high narrow palate. Growth parameters: microcephaly; OFC <3rd %ile.
 Developmental delay
 57379591
 59392181
  2012591
 GRCh38
 Deletion
 No
  bagheri_16_DD/ID_discovery_cases-case2
 1 yr. 8 mos.
 M
 Developmental delay
 Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; metatarsus adductus. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: none reported. Dysmorphic features: metopic prominence or craniosynostosis, abnormal head shape, downslanting palpebral fissures, ptosis, telecanthus, long and straight eyelashes, abnormal nasal root (broad/high or other), large ears, high narrow palate. Growth parameters: microcephaly; OFC <3rd %ile.
 Developmental delay
 60601422
 60628553
  27132
 GRCh38
 Deletion
 Yes
  balci_15_DD_discovery_cases-case1
 3 yrs.
 F
 Developmental delay
 Birth/neonatal history: product of dizygotic twin pregnancy achieved by in vitro fertilization; first trimester prenatal screening showed increased risk (1 in 340) for Down syndrome (cutoff 1 in 350); born at 34 weeks and 6 days of gestation via C-section; birth weight of 2515 g (50th %ile) and head circumference of 31.75 cm (10th-25th %ile); noted to have mild hypotonia, atrial septal defect, and preauricular skin tag at delivery; respiratory distress after birth that required intubation for one day. Developmental milestones: brought to medical attention at age of 6 months due to failure to meet developmental milestones achieved by twin sister; did not roll until 12 months, started to sit unassisted at 15 months, developed pincer grasp at 17 months, babbling at 15 months, first words at 2.5 years; no developmental regression. Language and communication evaluation: 10 words in vocabulary at age of 3 years. Motor and musculoskeletal evaluation: able to cruise but not walk independently at age of 3 years; mild hypotonia; no ataxia; no dysmetria. Behavioral/psychiatric evaluation: no unusual behaviors. Epilepsy/seizures: no seizures. Brain imaging: brain MRI at age of 15 months revealed preserved myelination pattern for patient's age, enlargement of ventricular system, cerebral and cerebellar sulci, basal cisterns, and enlargement of temporal horns (representing cerebral volume loss or athrophy) and hypoplastic cerebellar vermis and pons; markedly enlarged foramen of Magendie and cisterna magna; bowed and thinned corpus callosum; dysplastic and hypoplastic amygdala and hippocampus. Dysmorphic features: tall and prominent forehead with underdeveloped suproorbital ridges, horizontal palpebral fissures, long eyelashes, primary telecanthus, depressed nasal bridge, smooth philtrum, thin upper lip vermilion, small mouth, small chin, small preauricular skin tag on right ear. Growth parameters: height of 94 cm (50th %ile), weight of 14.1 kg (50th %ile) and head circumference of 47.5 cm (25th %ile) at age of 3 years. Family history: born to non-consanguineous couple of Northern European descent; dizygotic twin sister exhibited normal development at time of assessment.
 
 59731285
 60607163
  875879
 GRCh38
 Deletion
 Yes
  basak_15_ASD/DD_discovery_cases-case1
 14 yrs.
 N/A
 ASD and developmental delay
 Autism spectrum disorder, hypotonia, facial dysmorphism (asymmetric face, telecanthus, strabismus, mild ptosis, long eyelashes), progressive worsening of fine motor activity and coordination, hyperactivity, aggression, microcephaly (head circumference <3rd %ile for age), normal EEG, substantial persistance of fetal hemoglobin with otherwise apparently normal hematologic and immunologic function
 Moderate-to-severe developmental delay
 60462592
 60901094
  438503
 GRCh38
 Deletion
 Yes
  basak_15_ASD/DD_discovery_cases-case2
 6 yrs.
 N/A
 ASD and developmental delay
 Autism spectrum disorder, hypotonia, facial dysmorphism (asymmetric face, telecanthus, strabismus, mild ptosis, long eyelashes), progressive worsening of fine motor activity and coordination, hyperactivity, aggression, microcephaly (head circumference <3rd %ile for age), normal EEG, substantial persistance of fetal hemoglobin with otherwise apparently normal hematologic and immunologic function
 Moderate-to-severe developmental delay
 59802722
 60832248
  1029527
 GRCh38
 Deletion
 Yes
  basak_15_ASD/DD_discovery_cases-case3
 3.5 yrs.
 N/A
 ASD and developmental delay
 Autism spectrum disorder, hypotonia, facial dysmorphism (asymmetric face, telecanthus, strabismus, mild ptosis, long eyelashes), normal head size (25th %ile), noted to have a posterior fossa malformation on MRI, substantial persistance of fetal hemoglobin with otherwise apparently normal hematologic and immunologic function
 Moderate-to-severe developmental delay
 59731285
 60607163
  875879
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSSC05463
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 55366065
 55399964
  33900
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-866
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 26); Qualitative abnormalities in verbal and nonverbal communication, current score 7 (past score 15); Qualitative abnormalities in nonverbal communication, current score 0 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 3); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 45; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 3. Epilepsy: no history of epilepsy.
 Performance IQ 88, Verbal IQ 46, Full-scale IQ 66
 57937088
 59133268
  1196181
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300107
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 56655944
 57465572
  809629
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13015_203
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57623701
 57684020
  60320
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13115_1323
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57623701
 57684020
  60320
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14088_1520
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57138200
 57243565
  105366
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14302_4230
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 59982304
 60014687
  32384
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14327_4410
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57344603
 57400318
  55716
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case17020_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58135207
 58235596
  100390
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8416_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 59333069
 59428407
  95339
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8623_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55714305
 55812964
  98660
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1787301
 
 
 Autism
 
 
 56927979
 57035134
  107156
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1787302
 
 
 Autism
 
 
 56927979
 57035134
  107156
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1840305
 
 
 Autism
 
 
 57511448
 57635216
  123769
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU1102301
 
 
 Autism
 
 
 57506559
 57635216
  128658
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001594
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 55426587
 56072649
  646063
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1890
 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.
 
 57402640
 57436631
  33992
 Unknown
 Triplication
 No
  levy_17_DD_discovery_cases-caseP3
 7 yrs.
 M
 Developmental delay and autistic features
 Birth/neonatal history: born at 38 weeks gestation after an uneventful pregnancy; birth weight 90th %ile, height 90th %ile, OFC 90th %ile; heart murmur detected at birth; neonatal feeding difficulties due to gastroesophageal reflux; axial hypotonia detected at 2 months; pyelonephritis at 15 months. Developmental milestones: smile responses in the first few months of life, sat at 18 months, walked at 3 years; severely delayed language development. Motor and musculoskeletal evaluation: hyperlaxity of the large and small joints noted at 4 years 5 months; global hypotonia, joint laxity, and unsteady walk noted at 7 years. Behavioral/psychiatric evaluation: motor stereotypies (arm flapping, waving, head nodding). EEG: normal. Brain imaging: brain MRI at 18 months and at 4 years showed enlargement of lateral ventricles, cortical and subcortical atrophy, and mild cerebellar atrophy, especially in lower part of cerebellum. Growth parameters: height -0.5 SD, weight -0.5 SD, OFC in normal range. Family history: only child of unrelated healthy Caucasian parents.
 Overall developmental age estimated at 12 months (Psycho-Educational Profile-Revised)
 60397805
 60824732
  426928
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam762Proband9995
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 55147208
 55225835
  78628
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam796Proband9981
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 55147208
 55225835
  78628
 GRCh38
 Deletion
 No
  peter_14_DD/CAS_discovery_cases-case1
 11 yrs.
 M
 Developmental delay and childhood apraxia of speech
 Case diagnosed with childhood apraxia of speech (CAS) at age of 2 years 11 months. Developmental milestones: gross motor delays (onset of walking at 28 months instead of at expected age of 12 months); delayed onset of speech and language (expressive repertiore of 10 words at age of 2 years 11 months and extremely limited consonant inventory at that age). Language and communication evaluation: case presented with severe speech disorder; lanaguge testing using the Oral and Written Language Scales at age of 6 years 3 months revealed borderline low ability regarding listening comprehension and expressive language far below expectation for age; diagnosis of childhood apraxia of speech continued to be supported by observations of delayed or deviant speech and oral motor development at various time points; test scores far below normal limits on Kaufman Speech Praxia Test (test age equivalents were <2 years for Oral Movement Level, Simple Phonemic/Syllable Level, and Spontaneous Length, and 3.5-4 years for Complex Phonemic/Syllable Level, at age of 9 years 8 months); groping postures when following instructions to carry out non-speech oral movements; unable to maintain motor speech pattern during two separate trials and produced errors inconsistently; difficulty with oral diadochokinesis; substantially lower scores in expressive language (compared to receptive language). Motor and musculoskeletal evaluation: history of hypotonia and apraxia; speech testing at age of 9 years 8 months and 10 years 10 months showed that the proband's speech and non-speech oral movements were influences by low muscle tone (difficulty controlling saliva, difficulty chewing and swallowing, weak articulatory contacts, hoarse and breathy voice); consistent with dysarthria. Behavioral/psychiatric evaluation: difficulties with attention and focus; no signs of autism. Dysmorphic features: none reported. Growth parameters: no microcephaly or growth retardation. Family history: developmental delays present in the proband were not present in his parents or older brother; family history of ADD.
 History of mild learning disability placing him at 1st or 2nd grade level while at chronological 4th grade age.
 60472865
 60572865
  100001
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case9801_202
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 56297199
 56327243
  30045
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case121571
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 57689227
 57774945
  85719
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case88009
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57434946
 57481813
  46868
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-063
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 54991669
 55030541
  38873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11033.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 55097824
 55105667
  7844
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 56253436
 56280308
  26873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11048.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11069.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11106.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
 58332292
 58365550
  33259
 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
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11152.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
 57623701
 57684020
  60320
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11205.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 57714050
 57723211
  9162
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11255.p1
 12.7
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11318.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 113; verbal IQ, 116
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 58157692
 58168398
  10707
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11397.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
 56400415
 56479623
  79209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11469.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
 60860694
 60875811
  15118
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11474.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 57175505
 57219074
  43570
 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
 57178750
 57219074
  40325
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11520.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11530.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 57895515
 57905148
  9634
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 56494872
 56519496
  24625
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11611.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 34; verbal IQ, 27
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 58019323
 58035499
  16177
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11721.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11740.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11768.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11781.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11845.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11888.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11940.p1
 8.3
 F
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11979.p1
 7.5
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12053.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12062.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 126; verbal IQ, 120
 59336609
 59347474
  10866
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12108.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
 57178750
 57219074
  40325
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12139.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 57957475
 57993185
  35711
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 57302091
 57324952
  22862
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 60195420
 60217740
  22321
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12.3
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 57175505
 57214718
  39214
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12382.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 60816699
 60839531
  22833
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12415.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12434.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12492.p1
 15.4
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12524.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 59721994
 59726340
  4347
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12674.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12743.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
 55097824
 55102299
  4476
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12809.p1
 5.6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 59721994
 59726340
  4347
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12869.p1
 5.2
 F
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13120.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
 57175505
 57219074
  43570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 56485291
 56527344
  42054
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13159.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 59396513
 59398487
  1975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13388.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
 56636906
 56677433
  40528
 GRCh38
 Deletion
 No
  van_daalen_11_ASD_discovery_cases-S4
 5 yrs. 2 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 76. Family history of ASD and/or intellectual disability. Facial dysmorphic features. Family phenotypes: father's SRS score, 21; mother's SRS score, 73; brother1's SRS score, 50.
 WISC-III-NL scores: non-verbal cognitive score, 102; verbal cognitive score, 80.
 55263683
 55343949
  80267
 GRCh38
 Duplication
 Yes
  wang_18_TS_replication_cases-case25077.p1
 N/A
 N/A
 Tourette syndrome
 No additional clinical information available
 
 58525589
 58799087
  273499
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case61
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 57937088
 59133268
  1196181
 GRCh38
 Duplication
 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-controlSSC05487
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  55366065
  55399964
  33900
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036001121_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59015468
  59078490
  63023
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036003051_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56774971
  56910487
  135517
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB377265_1007853663
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55742445
  55795847
  53403
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB466917_1007874508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60767810
  60875811
  108002
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB557049_1007853857
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57623701
  57684020
  60320
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB666307_1007872266
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55119649
  55228335
  108687
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB672121_1007852911
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60776058
  60875811
  99754
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60767810
  60875811
  108002
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900340_900340
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57623701
  57684020
  60320
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
  N/A
  N/A
  Control
  No previous psychiatric history
 
  58626423
  58719432
  93010
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900495_900495
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56395862
  56590792
  194931
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56636906
  56677433
  40528
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57623701
  57684020
  60320
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900994_900994
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57635756
  57804114
  168359
  GRCh38
  Duplication
  No
  guo_17_ASD_discovery_controls-controlPY2774
  N/A
  N/A
  Control
  No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 
  56701504
  58255511
  1554008
  GRCh38
  Duplication
  Yes
  itsara_10_ASD_discovery_controls_2-10186
  NA
  NA
  Asthma
  NA
  NA
  60511092
  60669605
  158514
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1287
  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
 
  57402640
  57436631
  33992
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1617
  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
 
  55709416
  56048237
  338822
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split353
  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
 
  57402640
  57436631
  33992
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12340.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  55217810
  55222413
  4604
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11447.s1
  NA
  F
  Control
  NA
  NA
  55686111
  55709924
  23814
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27990
 
 
  Control
 
 
  59413305
  59529066
  115762
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  55097824
  55107909
  10086
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  56253436
  56280308
  26873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11048.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  55957263
  55967695
  10433
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11120.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11160.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11197.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  60056655
  60057965
  1311
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11205.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11212.s1
  19.2
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59417352
  20840
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11242.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11471.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11518.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11540.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  57027593
  57032480
  4888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11552.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  57895515
  57905148
  9634
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  56494872
  56519496
  24625
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11677.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  60000514
  60008648
  8135
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  58019323
  58035499
  16177
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11721.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11740.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11765.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11939.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11940.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12056.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12062.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  59336609
  59347474
  10866
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12121.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12202.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  60767810
  60875811
  108002
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  60816699
  60839531
  22833
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  59721994
  59726340
  4347
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12664.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  56774971
  56920455
  145485
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15.6
  F
  Control (matched sibling)
  NA
  NA
  59396513
  59398487
  1975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13120.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  56485291
  56527344
  42054
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  57175505
  57219074
  43570
  GRCh38
  Duplication
  No
  sebat_07_ASD_discovery_controls-NA10857
  NA
  M
  Unaffected (Control)
  NA
  NA
  58394177
  61180461
  58394177
  Unknown
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bagheri_16_DD/ID_discovery_cases-case2
 QMPSF
 
 De novo
 
 
 BCL11A
 
 bagheri_16_DD/ID_discovery_cases-case2
 
 
 De novo
 
 
 ACTG1P22,EIF3FP3,LINC01795,VRK2,FANCL,LINC01793,LINC01122
 
 bagheri_16_DD/ID_discovery_cases-case2
 QMPSF
 
 De novo
 
 
 
 
 balci_15_DD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Likely segregated
 RNU1-32P,MIR4432,BCL11A,MIR4432HG
 
 basak_15_ASD/DD_discovery_cases-case1
 FISH
 
 De novo
 
 
 RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL
 Reduced BCL11A expression (P<0.001); no significant reduction in PAPOLG expression
 basak_15_ASD/DD_discovery_cases-case2
 FISH
 
 De novo
 
 
 RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,BCL11A,ATP1B3P1,PAPOLG,LINC01185,MIR4432HG
 Reduced BCL11A expression (P<0.001); no significant reduction in PAPOLG expression
 basak_15_ASD/DD_discovery_cases-case3
 FISH
 
 De novo
 
 
 RNU1-32P,MIR4432,BCL11A,MIR4432HG
 
 brandler_18_ASD_discovery_cases-caseSSC05463
 PCR or SNP data validation
 
 Paternal
 
 
 CCDC88A
 
 chen_17_ASD_discovery_cases-caseU-866
 RT-qPCR
 
 Paternal
 
 
 EIF3FP3,LINC01795,VRK2,FANCL,LINC01122
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300107
 
 
 Unknown
 
 
 PPIAP63
 
 engchuan_15_ASD_discovery_cases-case13015_203
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13115_1323
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14088_1520
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14302_4230
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14327_4410
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case17020_1
 
 
 Unknown
 
 
 VRK2,FANCL
 
 engchuan_15_ASD_discovery_cases-case8416_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8623_201
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1787301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1787302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1840305
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1102301
 
 
 Inherited
 
 
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001594
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 BTF3P5,RNU6-775P,RNU6-221P,RNU6-634P,RN7SKP208,MIR217,MIR216A,MIR216B,CFAP36,PNPT1,EFEMP1,MIR217HG,PPP4R3B
 
 kanduri_15_ASD_discovery_cases-case1890
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, CCDC85A(dist=789331),VRK2(dist=837146)
 
 levy_17_DD_discovery_cases-caseP3
 qPCR
 
 De novo
 Simplex
 Likely segregated
 RN7SL361P,RNU6-612P,BCL11A,ATP1B3P1,PAPOLG,MIR4432HG
 
 nava_13_ASD_discovery_cases-Fam762Proband9995
 
 
 Unknown
 Simplex
 Unknown
 CLHC1
 
 nava_13_ASD_discovery_cases-Fam796Proband9981
 
 
 Maternal
 Simplex
 Unknown
 CLHC1
 
 peter_14_DD/CAS_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Likely segregated
 BCL11A
 
 pinto_14_ASD_discovery_cases2-case9801_202
 qPCR
 
 Paternal
 Simplex
 (not tested)
 CCDC85A
 
 prasad_12_ASD_discovery_cases-case121571
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case88009
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-063
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-433P,RTN4
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RTN4
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CCDC85A
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11069.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11106.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11152.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11205.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11255.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11318.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Paternal
 Simplex (trio)
 NA
 VRK2,FANCL
 
 sanders_11_ASD_discovery_cases-11397.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11469.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01185
 
 sanders_11_ASD_discovery_cases-11474.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11520.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11530.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11611.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 VRK2
 
 sanders_11_ASD_discovery_cases-11721.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11740.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11768.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11781.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11845.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11940.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11979.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12053.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12062.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12108.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12139.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Paternal
 Simplex (trio)
 NA
 VRK2
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12382.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL632P,LINC01185
 
 sanders_11_ASD_discovery_cases-12415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12434.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12492.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12674.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12743.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RTN4
 
 sanders_11_ASD_discovery_cases-12809.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12869.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13159.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13388.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 van_daalen_11_ASD_discovery_cases-S4
 Inheritance
 
 De novo
 Simplex
 NA
 PRORSD1P,MTIF2,CCDC88A
 
 wang_18_TS_replication_cases-case25077.p1
 CNV validation not attempted
 
 De novo
 
 
 LINC01122
 
 yin_16_ASD_discovery_cases-case61
 
 
 Unknown
 Unknown
 Unknown
 EIF3FP3,LINC01795,VRK2,FANCL,LINC01122
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05487
  PCR or SNP data validation
 
  Paternal
 
 
  CCDC88A
 
engchuan_15_ASD_discovery_controls-control110036001121_
 
 
  Unknown
 
 
  LINC01122
 
engchuan_15_ASD_discovery_controls-control110036003051_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB377265_1007853663
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
 
 
  Unknown
 
 
  RN7SL632P,RPL21P33,PAPOLG,LINC01185
 
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB666307_1007872266
 
 
  Unknown
 
 
  CLHC1
 
engchuan_15_ASD_discovery_controls-controlB672121_1007852911
 
 
  Unknown
 
 
  RN7SL632P,RPL21P33,PAPOLG,LINC01185
 
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
 
 
  Unknown
 
 
  RN7SL632P,RPL21P33,PAPOLG,LINC01185
 
engchuan_15_ASD_discovery_controls-controlHABC_900340_900340
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
 
 
  Unknown
 
 
  LINC01122
 
engchuan_15_ASD_discovery_controls-controlHABC_900495_900495
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900994_900994
 
 
  Unknown
 
 
  ACTG1P22
 
guo_17_ASD_discovery_controls-controlPY2774
  qPCR
 
  Unknown
 
 
  PPIAP63,ACTG1P22,EIF3FP3,VRK2,FANCL
 
itsara_10_ASD_discovery_controls_2-10186
 
 
  De novo
 
 
  RN7SL361P,BCL11A
 
kanduri_15_ASD_discovery_controls-control_split1287
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CCDC85A(dist=789331),VRK2(dist=837146)
 
kanduri_15_ASD_discovery_controls-control_split1617
 
 
  Unknown
 
 
  CCDC104,PNPT1,SMEK2
 
kanduri_15_ASD_discovery_controls-control_split353
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CCDC85A(dist=789331),VRK2(dist=837146)
 
krumm_15_ASD_discovery_controls-control12340.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CLHC1
 
levy_11_ASD_discovery_controls-11447.s1
 
 
  Paternal
  Simplex
  NA
  PNPT1
 
nord_11_ASD_discovery_controls-04C27990
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RTN4
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CCDC85A
 
sanders_11_ASD_discovery_controls-11048.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR217HG
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11160.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11197.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11205.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11212.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11242.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11471.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11518.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11540.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11552.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11677.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Unknown
  Simplex (quad)
  NA
  VRK2
 
sanders_11_ASD_discovery_controls-11721.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11740.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11765.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11939.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11940.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12056.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12062.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12121.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12202.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL632P,RPL21P33,PAPOLG,LINC01185
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL632P,LINC01185
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12664.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sebat_07_ASD_discovery_controls-NA10857
  390K ROMA or Agilent 244K aCGH
 
  De novo
  Control
  NA
  FLJ30838,MIR4432,BCL11A,PAPOLG,FLJ16341,REL,PUS10,PEX13
 

No Animal Model Data Available
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