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15q26.1CNV Type: Deletion-Duplication


Largest CNV size: 235258 bp

Statistics Box:
Number of Reports: 27



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, a...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Deletion
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
NA
Deletion
NA
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 4390
 1
 0
 1
 capelli_12_DD/EP_discovery_cases
 Third child of non-consanguineous parents referred for genetic evaluation at age of 6 years and presenting with global developmental delay and epilepsy
 1
 Global developmental delay, epilepsy, autistic behavior, and facial dysmorphisms.
 6 yrs.
 Female
 511000
 1
 0
 1
 capelli_12_DD_discovery_cases
 Third child of non-consanguineous parents referred for genetic evaluation and presenting with features suggestive of Angelman syndrome
 1
 Global developmental delay, epilepsy, autistic behavior, & facial dysmorphism
 6 yrs.
 Female
 511000
 1
 0
 1
 chenier_14_DD/ID/EP/ASD_discovery_cases
 CNV data from six genetic diagnostic laboratories (the Hospital for Sick Children, Toronto; Alberta Children's Hospital, Calgary; King's College London, London; Centre Hospitalier Universitaire Sainte-Justine, Montreal; Credit Valley Hospital, Mississauga; and Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke).
 42313
 Developmental delay/intellectual disability, multiple congenital anomalies, and/or ASD
 N/A
 N/A
 237000
 4
 0
 4
 dhamija_11_EP/PDD_discovery_cases
 9-year-old girl with history of pervasive developmental disorder and developmental delay referred to Dept. of Pediatric Neurology, Mayo Clinic (Rochester, MN) for diagnosis and treatment of intractable epilepsy since age of 3.5 years
 1
 Pervasive developmental disorder (PDD), intractible primary generalized epilepsy (EP), growth delay, and mild dysmorphic features.
 9 yrs.
 Female
 731200
 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
 241607
 9
 3
 12
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 101656
 0
 1
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 27278
 1
 0
 1
 kamien_13_ASD/EP_discovery_cases
 Only child of non-consanguineous parents from a pedigree with multiple affected individuals
 1
 ASD and epilepsy. Diagnosis of ASD based on meeting ADOS 2, ADI-R, and DSM-V criteria. Developmental assessment performed using Wechsler Preschool and Primary Scale of Intelligence (3rd edition; Australian Standardized Edition).
 6 yrs. 9 mos.
 Male
 520000
 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
 1268881
 1
 2
 3
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 31880
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 101655
 N/A
 N/A
 6
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 21504
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 61323
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 264000
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 71510
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 218984
 2
 0
 2
 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
 
 
 82998
 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
 92265
 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
 100717
 0
 1
 1
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 250000
 0
 1
 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
 235258
 15
 2
 17
 thomas_15_DD/ID/EP_discovery_cases
 Cases with CHD2 variants recruited to the Epilepsy Genetics Research Program at the University of Melbourne (n=9) or assessed by the EuroEPINOMICS-RES Consortium (n=1)
 10
 All ten cases presented with intellectual disability and epilepsy, while nine presented with developmental delay.
 Mean age of 17.9 yrs. (range 636 yrs.)
 60.0% Male
 2450345
 1
 0
 1
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 160735
 0
 1
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 883758
 1
 0
 1
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 42594
 0
 1
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 482000
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 56220
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chenier_14_DD/ID/EP/ASD_discovery_controls
 High-resolution CNV data from among 13 control cohorts (Ontario ARCTIC, POPGEN, Ottawa Heart Institute, HapMap phase 3, the Starr County Diabetes study, the Geneva NHS/HPFS Diabetes study, OPGP, WTCCC, SAGE consortium, Health ABC, KORA, COGEND, and Itsara et al., 2009)
 26826
 Control
 N/A
 N/A
 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
 160735
 7
 5
 12
 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
 203391
 1
 0
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 14814
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 14814
 3
 0
 3
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 21504
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 170126
 0
 1
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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.
 
 102320
 3
 0
 3
 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)
 100717
 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.
 
 190903
 13
 1
 14
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 160735
 N/A
 N/A
 N/A
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 56220
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 capelli_12_DD/EP_discovery_cases
  Brazil
 aCGH
  BlueGnome whole-genome oligoarray
 ADM-2
 Agilent Feature Extraction, Genomic Workbench
 None
 capelli_12_DD_discovery_cases
  Brazilian
 aCGH
  BlueGnome whole-genome oligoarray
 ADM-2
 Agilent Feature Extraction, Genomic Workbench
 None
 chenier_14_DD/ID/EP/ASD_discovery_cases
  N/A
 aCGH
  Oxford Gene Technology ISCA 180 K, Agilent 60K, NimbleGen CGX-12 135K array, Signature Genomics v1.0, CytoChip ISCA 60K, BlueGnome v2.0, CytoSure ISCA 180 K, Oxford Gene Technology v2.0
 
 
 MLPA, aCGH, or FISH
 dhamija_11_EP/PDD_discovery_cases
  Ashkenazi Jewish
 aCGH
  Agilent 44K
 
 
 FISH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 kamien_13_ASD/EP_discovery_cases
  Australia
 aCGH
  ISCA 60K genome-wide array
 
 BlueFuse-Multi
 FISH
 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
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 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
 
 
 thomas_15_DD/ID/EP_discovery_cases
  Australia
 aCGH
  Agilent Human Genome CGH 2x400K, NimbleGen Human CGH 3x720K Exon-Focused Array
 
 
 NA
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 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
  chenier_14_DD/ID/EP/ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Affymetrix 500k, Affymetrix 6.0, Illumina 1M, Illumina 1M-Duo, Illumina Omin 2.5M
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseSSC07827
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 92941008
 92945398
  4391
 GRCh38
 Deletion
 Yes
  capelli_12_DD/EP_discovery_cases-case1
 6 yrs.
 F
 Developmental delay and epilepsy
 Birth/neonatal history: uneventful pregnancy. Language and communication evaluation: severe speech impairment with minimal use of words (around 10-20). Motor and musculoskeletal evaluation: gait ataxia accompanied by uplifted arms; slight hypotonia with normal muscle strength; hyperactive deep tendon reflexes without the Babinski sign. Behavioral/psychiatric evaluation: autistic behaviors (hand flapping), additional behavioral disturbances included high excitability and short attention span. Epilepsy/seizures: seizures started at age of 24 months and were partially controlled by valproic acid. EEG: generalized spike-waves associated with focal discharges; focal epileptiform waves mainly localized to rolandic-parietal region, especially in left hemisphere (differed from three EEG patterns suggestive of Angelman syndrome). Brain imaging: no severe abnormalities observed on brain MRI. Dysmorphic features: prognathia, wide mouth, short and widely spaced teeth, non-paralytic strabismus, facial gestalt suggestive of Angelman syndrome; skin, hair, and eyes light in color. Growth parameters: weight 50th %ile, length 75th %ile, head circumference 10th %ile. Family history: third child of non-consanguineous parents.
 Global developmental delay
 92869630
 93380627
  510998
 GRCh38
 Deletion
 No
  capelli_12_DD_discovery_cases-proband
 6 yrs.
 F
 Developmental delay + epilepsy
 Birth/neonatal history: uneventful pregnancy. Developmental milestones: severe speech impairment with minimal use of words (10-20). Behavioral characteristics: autistic behavior; easily excitable personality with uplifted hand flapping. Gait ataxia accompanied by uplifted arms; slight hypotonia with normal muscle strength; hyperactive deep tendon reflexes without the Babinski sign. Epilepsy/seizures: seizures started at 24 months & were partially controlled with valproic acid. Brain MRI: no severe abnormalities. EEG: generalized spike-waves associated with focal discharges; focal epileptiform waves were mainly localized to rolandic-parietal region, especially in left hemisphere, and differed from EEG patterns suggestive of Angelman syndrome (AS). Dysmorphic features: hypopigmented skin, light hair & eye color, prognathia, wide mouth, short & widely spaced teeth, non-paralytic strabismus; facial gestalt suggestive of Angelman syndrome (AS). Growth parameters: height, 75th %ile; weight, 50th %ile; head circumference, 10th %ile.
 Severe developmental delay & mental deficiency
 92869630
 93380627
  510998
 GRCh38
 Deletion
 No
  chenier_14_DD/ID/EP/ASD_discovery_cases-case1
 11 yrs.
 F
 Epilepsy and developmental delay
 Birth/neonatal history: born by C-section at 38 weeks gestation; birth weight of 2977 g (25th %ile). Developmental milestones: motor and speech delay; sat upright at age of 1 year, walked at 22 months of age, first words at age of 3 years. Motor and musculoskeletal evaluation: mild hypotonia; 5th finger brachydactyly, syndactyly of toes 2 and 3, mild thoracic scoliosis, proximal interphalangeal joint fusion of thumbs. Behavioral/psychiatric evaluation: short attention span, aggressive behavior, limited social skills. Epilepsy/seizures: absence seizures with eyelid myoclonia (Jeavons syndrome; onset at 6 years of age); medications included lamotrigine and ethosuximide. Brain imaging: normal brain MRI. Other features: mild peripheral hearing loss (higher frequencies), duplex kidney. Dysmorphic features: square-shaped face, high forehead, prominent columella, short philtrum. Family history: born to healthy non-consanguineous Caucasian parents.
 Learning disability, short-term memory problems
 92780817
 92971870
  191054
 GRCh38
 Deletion
 Yes
  chenier_14_DD/ID/EP/ASD_discovery_cases-case2
 9 yrs.
 F
 Epilepsy and ADHD
 Birth/neonatal history: born at term (41 weeks gestation) after uneventful pregnancy; birth weight of 3610 g (50th %ile); mild axial hypotonia and feeding problems as an infant. Developmental milestones: walked at 15 months of age. Language and communication evaluation: communication disorder (receptive and expressive language difficulties). Motor and musculoskeletal evaluation: mild hypotonia. Behavioral/psychiatric evaluation: diagnosis of ADHD (treated with dextroamphetamine and amphetamine), limited social skills with any other ASD-associated features. Epilepsy/seizures: absence seizures (onset at 3 years of age), treated with levetiracetam and valproic acid. EEG: generalized epileptogenic dysfunction and photosensitivity. Brain imaging: not performed. Other features: reduced body fat mass. Dysmorphic features: triangular face, prominent forehead, full lips, widely spaced central maxillary incisors, micrognathia. Family history: born to non-consanguineous parents.
 Learning disability, short-term memory problems, visual perception disability
 92743103
 92953161
  210059
 GRCh38
 Deletion
 Yes
  chenier_14_DD/ID/EP/ASD_discovery_cases-case3
 6 yrs.
 F
 Intellectual disability and behavioral problems
 Birth/neonatal history: born at term by C-section after unremarkable pregnancy; birth weight of 2920 g (25th %ile); feeding difficulties and mild hypotonia as an infant. Developmental milestones: global developmental delay; sat upright at 9 months of age, walked at 26 months. Language and communication evaluation: normal speech, delayed language comprehension skills. Motor and musculoskeletal evaluation: mild delays in fine motor skills; normal tone at age of 6 years; unable to climb stairs with alternating feet and had difficulty pedaling a tricycle. Behavioral/psychiatric evaluation: aggressive, impulsive, and repetitive behaviors (did not meet criteria for ASD). Epilepsy/seizures: none. EEG: normal. Brain imaging: normal brain MRI. Other features: ongoing issues with chewing and swallowing food properly in early childhood. Dysmorphic features: brachycephaly, broad forehead, short nose with upturned tip, strabismus. Growth parameters: normal. Family history: born to healthy non-consanguineous parents.
 Intellectual disability; below 1st %ile on Wechsler Preschool and Primary Scale of Intelligence-Third Edition full-scale IQ test at age of 4 years.
 92912938
 92991108
  78171
 GRCh38
 Deletion
 Yes
  chenier_14_DD/ID/EP/ASD_discovery_cases-case4
 16 yrs.
 F
 ASD, ID, and epilepsy
 Developmental milestones: global developmental delay with more significant speech delay. Motor and musculoskeletal evaluation: mild thoracic scoliosis. Behavioral/psychiatric evaluation: ASD, aggressive behavior, Tourette syndrome. Epilepsy/seizures: complex partial and generalized seizures noted between 3 and 24 months of age. Brain imaging: normal brain MRI. Dysmorphic features: none reported. Growth parameters: normal.
 Intellectual disability; IQ range of 35-49.
 93020334
 93257665
  237332
 GRCh38
 Deletion
 Yes
  dhamija_11_EP/PDD_discovery_cases-case1
 9 yrs.
 F
 PDD and Epilepsy
 Birth/neonatal history: pregnancy complicated by preterm delivery at 36 weeks gestation by C-section for decreased fetal heart rate; pregnancy also notable for concerns of small for gestational age detected in last trimester; birth weight 1.96 kg (25th %ile). Developmental milestones: did not walk until 2 years of age; delayed communication skills with echolalia, delayed social skills, and unusual preoccupation with mirrors and lights manifested at 2.5 years of age. Formal neuropsychological testing at 6, 7, and 8 years of age revealed impairment across domains of langauge, visual spacial, visual motor, motor, behavior, and language. Language and communication evaluation: speech delay; echolalia. Motor and musculoskeletal evaluation: results of motor examination were nonfocal. Behavioral/psychiatric evaluation: delayed social skills, preoccupation with mirrors and light, behavioral impairment. Epilepsy/seizures: onset of seizures at 3.5 years of age; initial seizures were partial complex; development of intractable generalized seizures over the next few years; most prominent seizure types were absence seizures; also experienced tonic, myoclonic, and generalized tonic-clonic seizures in the past; seizures refractory to antiepileptic therapy. EEG: generalized atypical spike and wave discharges and photoparoxysmal response. Brain imaging: MRI and MRS normal. Dysmorphic features: mildly dysmorphic facial features with widely set eyes, deep pits on helix of ears bilaterally, crowed teeth with prominent incisors. Growth parameters: short stature; microcephaly [head circumference of 48.5 cm (<3rd %ile)]. Family history: significant for Ashkenazi Jewish ancestry, although prenatal screening of mother revealed nothing abnormal.
 Mild generalized cognitive delay
 92289175
 93020394
  731220
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14070_1230
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92855773
 92938770
  82998
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14144_2420
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90295161
 90455896
  160736
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14314_4310
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93602299
 93705236
  102938
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16029_1571001001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93607492
 93699756
  92265
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20066_1318001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92726990
 92837684
  110695
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3381_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93602299
 93705236
  102938
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3609_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90295161
 90455896
  160736
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4231_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 88639365
 88680122
  40758
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8117_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93607492
 93699756
  92265
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8423_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89528503
 89570701
  42199
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8534_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93607492
 93699756
  92265
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8695_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92045651
 92287258
  241608
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0020473
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 90354661
 90456316
  101656
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case548-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 90602377
 90629655
  27279
 GRCh38
 Deletion
 No
  kamien_13_ASD/EP_discovery_cases-case1
 6 yrs. 9 mos.
 M
 ASD and epilepsy
 Diagnosis of ASD made at age of 6 years 9 months based on meeting ADOS 2, ADI-R, and DSM-V criteria. ADOS 2 scores: social affect total score of 20; restricted and repetitve behaviors total score of 5; overall total score of 25 (cut-off score of 9). ADI-R scores: qualitative abnormalities in reciprocal social interaction score of 23 (cut-off score of 10); qualitative abnormalities in communication score of 18 (cut-off score of 8); restricted, repetitive and stereotyped patterns of behavior score of 7 (cut-off score of 3); abnormality of development evident at or before 36 months score of 3 (cut-off score of 1). Birth/neonatal history: unremarkable pregnancy history, born at 38 weeks gestation via C-section for cephalopelvic disproportion, no neonatal complications. Developmental milestones: milestones such as walking and speech attained at appropriate times; mother reports patient was never interested in people and describes behavior as unusual from a young age, including pica. Behavioral/psychiatric evaluation: hyperactivity, impulsivity, poor attention, frequent tantrums, occassional aggression, fixation on sharp objects; occassionally threatens self-harm or violence to others; over-familiar with strangers and can exhibit inappropriate hugging or kissing; poor social reciprocity; exhibits repetitive play and repetitive speech and dislikes changes to routine; constant crying exhibited since birth; high pain threshold; treatment with topiramate resulted in almost immediate improvement in behavior and de-escalation in aggression and violence. Sleep disturbances: poor sleep requiring melatonin treatment. Epilepsy/seizures: epilepsy started at age of 6 months; presumed absence seizures, drop seizures, and generalized tonic-clonic seizures (occurring every few days to few months); three febrile convulsions between 16-24 months of age. EEG: normal or showing isolated theta waves in right frontal region. Brain imaging: brain MRI within normal limits at age of 5 years. Dysmorphic features: mild eczema. Growth parameters: head circumference of 51.2 cm (50th %ile), height 75th %ile, weight 90th %ile. Family history: first child of non-consanguineous parents; father with diagnosis of antisocial personality disorder (could not be confirmed); strong family history of depression on paternal side of family; paternal half-brother with three febrile convulsions (information regarding intellectual functioning or behavior N/A); intellectually normal mother suffers from migraines; one maternal uncle with ADHD and hypospadias, another maternal uncle with Asperger-like traits (but no formal diagnosis).
 Verbal IQ estimated to be in average range (27th %ile), performance IQ estimated to be in low-average range of abilities (14th %ile); complete developmental assessment [using Wechsler Preschool and Primary Scale of Intelligence (3rd edition; Australian standardized edition)] performed at age of 5 years was not possible due to patient's frustration and aggression.
 92173728
 92695591
  521864
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004610
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 92170113
 93438995
  1268883
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005245
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 92900794
 93012446
  111653
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 92780719
 93487233
  706515
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13543.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13543. SRS score of 82.
 Full-scale IQ (FSIQ) score of 42.
 90944891
 90976771
  31881
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11463.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 89292687
 89295094
  2408
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11556.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 89247647
 89264607
  16961
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12032.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 89790459
 89797722
  7264
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 90354660
 90456315
  101656
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13314.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 92941821
 92944515
  2695
 GRCh38
 N/A
 Yes
  krumm_15_ASD_discovery_cases-case13578.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 90354660
 90390873
  36214
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case20
  NA NA
 N/A
 M
 ASD and psychosis
 Male, above average IQ, psychosis onset early 20s after stressful life event, diagnosis of bipolar II, no known family history. CNV not reported in DGV.
 Above average IQ
 90005966
 90027470
  21505
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12117.p1
 NA
 M
 ASD
 NA
 NA
 90496811
 90558133
  61323
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown44
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 92997770
 93262301
  264532
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0256-004
 NA
 M
 ASD
 NA
 NA
 89578165
 89649674
  71510
 GRCh38
 Duplication
 Yes
  pfundt_16_NDD_discovery_cases-case40
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: KIF7 deletion
 
 89483066
 89702050
  218985
 GRCh38
 Deletion
 No
  pfundt_16_NDD_discovery_cases-case99
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: BLM deletion
 
 90638445
 90769587
  131143
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case14070_1230
 NA
 M
 Autism
 No language delay, no epilepsy; micrognatia, protruding ears; brain MRI: altered angular gyrus (normal variant, unknown pathological significance)
 Mild MR
 92855773
 92938770
  82998
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case8534_201
 N/A
 M
 ASD
 Autism on ADI, ASD on ADOS; physical exam at 23 y: overweight (+3.6 SD, BMI 30.4), normal height, head circumference +2 SD, Duane syndrome (congenital disorder of eye movement), no epilepsy. Family history: mother with congenital hearing loss, peculiar gait, shyness in childhood, rigidity, and eating disorder; father unaffected; 1 healthy brother and 1 healthy sister (not tested).
 VIQ 136, PIQ 105
 93607492
 93699756
  92265
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case43738
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 87901094
 88001810
  100717
 Unknown
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase4
 9 yrs.
 M
 ASD
 Dysmorphism
 
 89112540
 89362689
  250150
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 93591861
 93632721
  40861
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 90940162
 90946689
  6528
 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
 93109005
 93344263
  235259
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 93607492
 93699756
  92265
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 89241450
 89260880
  19431
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11583.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
 92701869
 92724106
  22238
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 93593501
 93620471
  26971
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 93593501
 93620471
  26971
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11947.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
 90920331
 90925427
  5097
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 89550172
 89570701
  20530
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 89790334
 89793142
  2809
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12099.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
 88725816
 88734096
  8281
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 90500277
 90554732
  54456
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 93315802
 93322905
  7104
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12329.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
 88725816
 88734096
  8281
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12403.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 91441263
 91445901
  4639
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 88725816
 88734096
  8281
 GRCh38
 Deletion
 No
  thomas_15_DD/ID/EP_discovery_cases-case9
 36 yrs.
 F
 Developmental delay, intellectual disability, and epilepsy/seizures
 Developmental milestones: developmental delay, speech delay (poor verbal comprehension at 2 years), developmental regression. Motor and musculoskeletal evaluation: mildly crouched gait. Behavioral/psychiatric evaluation: autistic traits, aggressive behavior. Epilepsy/seizures: generalized tonic-clonic seizures with onset at 34 months, myoclonic seizures (self-induced with television or light through trees) with onset at 4 years, absence seizures with eyelid myoclonia with onset at 4 years. EEG: abnormal (generalized epileptiform discharges at 5 years).
 Mild intellectual disability
 90484300
 92934644
  2450345
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14144-2420
 N/A
 M
 ASD
 N/A
 N/A
 90295161
 90455896
  160736
 GRCh38
 Duplication
 No
  wang_18_TS_discovery_cases-caseM_RU_30.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 2 cohort; no additional clinical information available
 
 89301325
 90185081
  883757
 GRCh38
 Deletion
 Yes
  woodbury-smith_14_ASD_discovery_cases-case13
 N/A
 M
 ASD
 Family history: broad autism phenotype (BAP)-defined father.
 
 44624341
 44666934
  42594
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case9
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 92141848
 92623467
  481620
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case484
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 89248285
 89304504
  56220
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036020196_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93593501
  93623530
  30030
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036022127_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93408897
  93458403
  49507
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB141230_1007874883
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90295161
  90455896
  160736
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB287525_1007875241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93607492
  93699756
  92265
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB338193_1007852606
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90282201
  90409000
  126800
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB413051_1007853900
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90295161
  90455896
  160736
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB467732_1007842340
  N/A
  N/A
  Control
  No previous psychiatric history
 
  92685403
  92727308
  41906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB742876_1007852892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90307530
  90455896
  148367
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB772514_1007874267
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93607492
  93699756
  92265
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93607492
  93699756
  92265
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900579_900579
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93607492
  93699756
  92265
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90455896
  90571144
  115249
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1183
  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
 
  93726657
  93930047
  203391
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12651.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12651. SRS score of 38.
 
  90942911
  90957725
  14815
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11463.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  89292687
  89295094
  2408
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12651.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  90942911
  90957725
  14815
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13682.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  90223558
  90232327
  8770
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-12240.s1
  NA
  F
  Control
  NA
  NA
  90105323
  90275448
  170126
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C26602
 
 
  Control
 
 
  91947290
  92049609
  102320
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C27853
 
 
  Control
 
 
  91937939
  91966473
  28535
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28495
 
 
  Control
 
 
  88038133
  88081965
  43833
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  93458074
  93471328
  13255
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  93580568
  93636131
  55564
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  93315802
  93322905
  7104
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11545.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  93593501
  93620471
  26971
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  89241450
  89260880
  19431
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  93593501
  93624460
  30960
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11922.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  88725816
  88734096
  8281
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  89550172
  89564000
  13829
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12240.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  90104624
  90295527
  190904
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  88725816
  88734096
  8281
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12651.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  90946475
  90955051
  8577
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12655.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  93215984
  93307995
  92012
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  93593501
  93620471
  26971
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12921.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  93593501
  93620471
  26971
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC07827
 PCR or SNP data validation (SNP VCF)
 
 De novo
 
 
 CHD2
 
 capelli_12_DD/EP_discovery_cases-case1
 
 
 De novo
 Simplex
 Likely segregated
 MIR3175,LINC01578,CHD2,RGMA
 
 capelli_12_DD_discovery_cases-proband
 
 
 De novo
 
 
 MIR3175,LINC01578,CHD2,RGMA
 Normal methylation pattern in Prader-Willi-Angelman critical region (PWACR)
 chenier_14_DD/ID/EP/ASD_discovery_cases-case1
 MLPA, aCGH, or FISH
 
 De novo
 
 
 ASB9P1,MIR3175,LINC01578,FAM174B,CHD2
 
 chenier_14_DD/ID/EP/ASD_discovery_cases-case2
 MLPA, aCGH, or FISH
 
 De novo
 
 
 ASB9P1,MIR3175,LINC01578,FAM174B,CHD2
 
 chenier_14_DD/ID/EP/ASD_discovery_cases-case3
 MLPA, aCGH, or FISH
 
 De novo
 
 
 CHD2
 
 chenier_14_DD/ID/EP/ASD_discovery_cases-case4
 MLPA, aCGH, or FISH
 
 De novo
 
 
 CHD2,RGMA
 
 dhamija_11_EP/PDD_discovery_cases-case1
 FISH
 
 De novo
 Possibly simplex
 Possibly segregated
 HMGN1P38,ASB9P1,MIR3175,ENO1P2,C15orf32,LINC00930,H2AFVP1,LINC01578,ST8SIA2,FAM174B,CHD2
 
 engchuan_15_ASD_discovery_cases-case14070_1230
 
 
 De novo
 
 
 MIR3175,LINC01578,CHD2
 
 engchuan_15_ASD_discovery_cases-case14144_2420
 
 
 Unknown
 
 
 GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
 engchuan_15_ASD_discovery_cases-case14314_4310
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16029_1571001001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20066_1318001
 
 
 Unknown
 
 
 ASB9P1,H2AFVP1,FAM174B
 
 engchuan_15_ASD_discovery_cases-case3381_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3609_3
 
 
 Unknown
 
 
 GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
 engchuan_15_ASD_discovery_cases-case4231_1
 
 
 Unknown
 
 
 ISG20
 
 engchuan_15_ASD_discovery_cases-case8117_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8423_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8534_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8695_201
 
 
 Unknown
 
 
 DUXAP6,NPM1P5,SLCO3A1
 
 feliciano_19_ASD_discovery_cases-caseSP0020473
 
 
 Paternal
 Simplex
 
 NDUFA3P4,ZNF774,IQGAP1
 null
 gazzellone_14_ASD_discovery_cases-case548-3
 
 
 Unknown
 Unknown
 Unknown
 CRTC3,CRTC3-AS1
 
 kamien_13_ASD/EP_discovery_cases-case1
 FISH
 
 Unknown (not maternal)
 Multi-generational
 Unknown
 DUXAP6,NPM1P5,ENO1P2,C15orf32,LINC00930,ST8SIA2,FAM174B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004610
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUXAP6,NPM1P5,HMGN1P38,ASB9P1,MIR3175,ENO1P2,C15orf32,LINC00930,H2AFVP1,LINC01578,SLCO3A1,ST8SIA2,FAM174B,CHD2,RGMA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005245
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR3175,CHD2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ASB9P1,MIR3175,LINC01578,FAM174B,CHD2,RGMA
 
 krumm_13_ASD_discovery_cases-case13543.p1
 
 
 Maternal
 Simplex
 Segregated
 RCCD1,UNC45A,PRC1,PRC1-AS1
 
 krumm_15_ASD_discovery_cases-case11463.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FANCI
 
 krumm_15_ASD_discovery_cases-case11556.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 FANCI
 
 krumm_15_ASD_discovery_cases-case12032.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ANPEP
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 NDUFA3P4,ZNF774,IQGAP1
 
 krumm_15_ASD_discovery_cases-case13314.p1
 aCGH
 
 De novo
 Simplex
 
 CHD2
 
 krumm_15_ASD_discovery_cases-case13578.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 NDUFA3P4,ZNF774,IQGAP1
 
 larson_17_ASD_discovery_cases-case20
 
 
 Unknown
 Simplex
 Unknown
 MIR3174,ZNF710
 
 levy_11_ASD_discovery_cases-12117.p1
 
 
 Maternal
 Simplex
 Segregated
 IQGAP1,CRTC3
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown44
 
 
 Paternal
 Unknown
 Unknown
 CHD2,RGMA
 
 marshall_08_ASD_discovery_cases-MM0256-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 TICRR,KIF7
 
 pfundt_16_NDD_discovery_cases-case40
 
 
 
 
 
 RPL36AP43,RHCG,TICRR,PLIN1,PEX11A,WDR93,LINC00928,KIF7
 
 pfundt_16_NDD_discovery_cases-case99
 
 
 
 
 
 LINC01585,BLM,CRTC3,CRTC3-AS1
 
 pinto_10_ASD_discovery_cases-case14070_1230
 qPCR-Denovo
 
 De novo
 Multiplex
 Not tested
 MIR3175,LINC01578,CHD2
 
 pinto_14_ASD_discovery_cases2-case8534_201
 qPCR
 
 Paternal
 Simplex
 Unknown (1 healthy brother and 1 healthy sister, not tested)
 
 
 prasad_12_ASD_discovery_cases-case43738
 
 
 Unknown
 Unknown
 Unknown
 KIF7,C15orf42
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase4
 BACs aCGH or FISH
 
 Unknown (not paternal)
 Unknown
 Unknown
 RNU7-195P,HMGB1P8,MIR6766,RLBP1,POLG,FANCI,MIR9-3HG,ABHD2
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 UNC45A
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FANCI
 
 sanders_11_ASD_discovery_cases-11583.p1
 
 
 Maternal
 Simplex (trio)
 NA
 HMGN1P38,H2AFVP1,FAM174B
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11947.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MAN2A2
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ANPEP
 
 sanders_11_ASD_discovery_cases-12099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IQGAP1,CRTC3
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12329.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12403.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CRAT37
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 thomas_15_DD/ID/EP_discovery_cases-case9
 Not reported
 
 De novo
 
 
 BLM,CHD2,FES,SLCO3A1,VPS33B,UNC45A,CRTC3,RCCD1,C15orf32,HDDC3,FAM174B,DUXAP6,HMGN1P38,H2AZ2P1,ASB9P1,NPM1P5,MAN2A2,FURIN,LINC00930,ENO1P2,THRAP3P2,MIR3175,CHASERR,HSPE1P3,PRC1-AS1,VPS33B-DT,CRTC3-AS1,LINC01585,RN7SL363P,IQGAP1,ST8SIA2,RCCD1-AS1,PRC1,SV2B
 
 walker_13_ASD_discovery_cases-case8-14144-2420
 
 
 Unknown
 Simplex
 Unknown
 GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
 wang_18_TS_discovery_cases-caseM_RU_30.p1
 qPCR
 
 De novo
 
 
 MIR6766,MIR9-3,RPL36AP43,RNU6-132P,MESP1,MRPL15P1,MIR5094,MIR5009,RNU6-1111P,RNU7-111P,MIR3174,RN7SL346P,POLG,RHCG,TICRR,PLIN1,PEX11A,WDR93,MESP2,ANPEP,AP3S2,ARPIN,ZNF710-AS1,IDH2,IDH2-DT,FANCI,MIR9-3HG,LINC00928,KIF7,ZNF710,SEMA4B
 
 woodbury-smith_14_ASD_discovery_cases-case13
 
 
 Paternal
 Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
 Unknown
 SPG11,PATL2
 
 xu_16_ASD/DD/ID_discovery_cases-case9
 
 
 Maternal
 
 
 DUXAP6,NPM1P5,ENO1P2,C15orf32,LINC00930,SLCO3A1,ST8SIA2,FAM174B
 
 yin_16_ASD_discovery_cases-case484
 
 
 Unknown
 Unknown
 Unknown
 FANCI
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020196_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036022127_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
 
 
  Unknown
 
 
  GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
 
 
  Unknown
 
 
  RN7SL736P,GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
 
 
  Unknown
 
 
  GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
 
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
 
 
  Unknown
 
 
  HMGN1P38,H2AFVP1,FAM174B
 
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
 
 
  Unknown
 
 
  GABARAPL3,NDUFA3P4,ZNF774,IQGAP1
 
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900579_900579
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
 
 
  Unknown
 
 
  IQGAP1,CRTC3
 
kanduri_15_ASD_discovery_controls-control_split1183
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, RGMA(dist=94214),MCTP2(dist=911383)
 
krumm_13_ASD_discovery_controls-control12651.s1
 
 
  Paternal
  Simplex
 
  RCCD1,UNC45A
 
krumm_15_ASD_discovery_controls-control11463.s1
  Illumina 1M
 
  Maternal
 
 
  FANCI
 
krumm_15_ASD_discovery_controls-control12651.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RCCD1,UNC45A
 
krumm_15_ASD_discovery_controls-control13682.s1
  1M-Duov3
 
  Paternal
 
 
  CIB1,SEMA4B
 
levy_11_ASD_discovery_controls-12240.s1
 
 
  Maternal
  Simplex
  NA
  RN7SL346P,RPS12P26,CIB1,IDH2-DT,GDPGP1,TTLL13P,NGRN,SEMA4B
 
nord_11_ASD_discovery_controls-04C26602
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C27853
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28495
 
 
 
 
 
  WDR93
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11545.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FANCI
 
sanders_11_ASD_discovery_controls-11868.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11922.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12240.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL346P,RPS12P26,CIB1,RN7SL736P,IDH2-DT,GDPGP1,TTLL13P,NGRN,GOLGA2P8,SEMA4B
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12651.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RCCD1,UNC45A
 
sanders_11_ASD_discovery_controls-12655.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12921.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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