22q11.23CNV Type: Deletion-Duplication
Largest CNV size: 816604 bp
Statistics Box:
Number of Reports: 33
Number of Reports: 33
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion-Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of rare copy number variants in high burden schizophrenia families.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
3707
0
2
2
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
42295
2
0
2
dabell_13_ASD/DD/ID_discovery_cases
Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
30065
Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
N/A
N/A
1240740
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
477786
3
1
4
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
681893
2
3
5
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
233841
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1171000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
370104
0
3
3
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
1348621
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1491764
1
12
13
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
535984
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1070467
10
14
24
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
1336322
0
2
2
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1327755
0
2
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
1336323
0
2
2
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
52722
2
0
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1331000
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
627064
0
2
2
maini_18_ASD/DD/ID_discovery_cases
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
244000
0
2
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
251000
7
2
9
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
1200000
0
1
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
47394
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
42295
1
0
1
pinchefsky_17_DD_discovery_cases
3-year-old female born to healthy non-consanguineous parents with two healthy developmentally normal siblings
1
Case presented with global developmental delay, autistic features, and sensorineural hearing loss
3 years
Female
1241000
0
1
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
7154
1
2
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
816604
1
4
5
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
283000
0
1
1
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
47747
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
47747
1
0
1
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
178000
1
0
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
238125
2
1
3
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
73208
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
58194
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
47755
4
1
5
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
21255
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
409108
3
1
4
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
1164644
1
0
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
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
2989
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1034970
6
11
17
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
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
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
284691
0
3
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)
7154
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.
70626
2
2
4
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
47755
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
dabell_13_ASD/DD/ID_discovery_cases
N/A
aCGH
Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinchefsky_17_DD_discovery_cases
Moroccan
aCGH
NimbleGen CGX-12
FISH
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
celestino-soper_11_ASD_discovery_cases-11417
NA
M
ASD
NA
NA
272187
275894
3708
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11417
NA
M
ASD
NA
NA
270488
271197
710
GRCh38
Duplication
Yes
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
242134
284429
42296
GRCh38
Homozygous deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient36
2 yrs.
F
Developmental delay
Indication for study: developmental delay, short stature.
Developmental delay
23408742
24595702
1186961
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU0039303
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
23918244
24396030
477786
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU008404
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: trigonocephaly
23967181
24255991
288810
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU021903
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: Sotos syndrome
23967181
24287542
320361
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU059003
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: syndactyly
23967181
24260853
293672
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case14242_3660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24013510
24597400
583891
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14242_3660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23323169
23925933
602765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14291_4120
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23837315
23918556
81242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5551_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23579240
23638681
59442
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6275_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23438888
23509514
70627
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1284301
Autism
23621076
23854916
233841
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-13804.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
23487813
24604033
1116221
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
25238334
25608438
370105
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
23778316
23858140
79825
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28305103475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
23778316
23858140
79825
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI0172
NA
NA
Autism
NA
NA
23305822
24600663
1294842
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
25299502
25507576
208075
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24884631
25299561
414931
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23285152
24723136
1437985
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001595
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23354221
24541945
1187725
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001730
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23247480
23670363
422884
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002665
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23369950
24669609
1299660
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003979
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23377984
24563859
1185876
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004014
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23377784
24564000
1186217
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004489
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23377984
24563859
1185876
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004568
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23377984
24669609
1291626
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004774
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23414627
24563859
1149233
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004789
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23338443
24577664
1239222
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004881
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23377984
24669609
1291626
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11090.p1
N/A
M
ASD
ASD proband from SSC quad family 11090. SRS score of 83.
Full-scale IQ (FSIQ) score of 56.
23692030
23956032
264003
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11090.p1
N/A
M
ASD
ASD proband from SSC quad family 11090. SRS score of 83.
Full-scale IQ (FSIQ) score of 56.
24035513
24571977
536465
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11031.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
207901
273688
65788
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11090.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
24035513
24571977
536465
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11285.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
267785
304135
36351
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11297.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11301.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
267785
304135
36351
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11329.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
304135
84900
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11394.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12231.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12361.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
304135
84900
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12367.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
23692030
23696688
4659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12497.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
304135
84900
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12669.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12722.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13136.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13150.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13226.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13244.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
23692030
23696688
4659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13377.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
207901
273688
65788
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13536.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
219236
304135
84900
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13804.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
23573265
24589951
1016687
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14188.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14215.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
219236
273688
54453
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0011
21 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include auditory hallucinations, persecutory delusions, repeated suicide attempts, psychomotor agitation). Congenital and developmental phenotypes: premature birth. Family history: positive for bipolar disorder (BPD).
IQ > 70
23317839
24597843
1280005
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0134
32 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 31 years of age (core symptoms include cenesthetic hallucinations, auditory hallucinations). Family history: positive.
IQ > 70
23317839
24654160
1336322
GRCh38
Duplication
N/A
kushima_22_BPD_discovery_cases-caseBD1731
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
23361793
24689547
1327755
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD2025
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
23340000
24643362
1303363
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0011
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
23317838
24597843
1280006
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0134
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
23317838
24654160
1336323
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
229123
281844
52722
GRCh38
Homozygous deletion
No
leppa_16_ASD_discovery_cases-AU004104
N/A
N/A
ASD
SRS total score 108
Raven's non-verbal IQ 38
23323169
24600663
1277495
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1202201
N/A
M
ASD
23322813
24601033
1278221
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11090.p1
NA
M
ASD
NA
NA
23351601
23928110
576510
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11090.p1
NA
M
ASD
NA
NA
24013510
24632304
618795
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case156
6 yrs.
M
Intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: clinodactyly of the 4th toes, skeletal anomalies. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no. Additional medical history: skin anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
23780141
23826694
46554
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case213
5 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations, neurological anomalies, skin softness/joint laxity. Dysmorphic features: upslanting palpebral fissures, large mouth, widely spaced teeth, cupid bow's in upper lip, anterior creases in earlobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
24013510
24161157
147648
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case1602
NA
ASD
NA
NA
24045000
24240000
195900
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case1603
NA
ASD
NA
NA
23993000
24244000
251000
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case1604
NA
ASD
NA
NA
24156000
24234000
78500
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case3604
NA
ASD
NA
NA
23415000
23431000
16400
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case3605
NA
ASD
NA
NA
23389000
23431000
41600
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case6501
NA
ASD
NA
NA
23993000
24240000
247000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case7001
NA
ASD
NA
NA
22246000
22304000
58000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case7901
NA
ASD
NA
NA
24007000
24240000
233100
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case8501
NA
ASD
NA
NA
23993000
24240000
246900
Unknown
Deletion
No
munnich_19_ASD_discovery_cases-case32
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
23397250
24592488
1195239
GRCh38
Duplication
Yes
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
242134
289528
47395
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
242134
284429
42296
GRCh38
Deletion
No
pinchefsky_17_DD_discovery_cases-case1
3 yrs.
F
Developmental delay and autistic features
Birth/neonatal history: product of an unremarkable pregnancy; delivery was spontaneous, vaginal, and uncomplicated; birth weight of 3955 g (98th %ile), height of 52 cm (90th %ile), and head circumference of 36 cm (97th %ile). Developmental milestones: global developmental delay; walked at appropriate age of 12 months; severe receptive and expressive language delay, with some signs of language regression noted at 30 months (acquired approximately 10 words between ages of 12 and 20 months, which were subsequently lost); significant delay in gross and fine motor development noted on formal developmental assessment at 22 months of age (1st %ile for age using Peabody Developmental Motor Scales); could not go down stairs, jump, or kick a ball at 39 months. Language and communication evaluation: absent speech (currently no word output, but can understand simple instruction). Motor and musculoskeletal evaluation: increased tone in lower extremities with tight heel cords; toe walking; brisk deep tendon reflexes; wore articulated ankle-foot orthoses. Behavioral/psychiatric evaluation: autistic features (inconsistent eye contact, does not point to her wants, prefers to play on her own but will interact with others if prompted, does not engage in pretend play); hyperactivity; difficult behavior; occasional tantrums; bruxism. Epilepsy/seizures: developed febrile seizures at 9 months of age, then afebrile generalized seizures that were well-controlled on clobazam. EEG: mild-to-moderate disturbance of cerebral activity in the form of paroxysmal activity. Brain imaging: delayed myelination bilaterally on brain MRI at 3 years of age. Auditory evaluation: bilateral mild-to-moderate sensorineural hearing loss noted at 23 months of age. Dysmorphic features: thin upper lip, slightly long and well-defined philtrum, mild retromicrognathia, bulbous nose, arched eyebrows. Growth parameters: weight of 18.3 kg (90th %ile), height of 87 cm (2nd %ile), and head circumference of 48.5 cm (25th %ile) at 3 years of age. Family history: born to healthy, non-consanguineous parents of Moroccan origin; 2 healthy developmentally normal siblings.
Global developmental delay
23408742
24595702
1186961
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100555L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
22362148
22369301
7154
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case154266L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
23221698
23228481
6784
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case83548L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
23253981
23259616
5636
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
23305822
23820894
515073
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
23840313
24603137
762825
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
23438888
23510307
71420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
23579240
23638681
59442
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
23688720
23696660
7941
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case26
8 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
23553376
23835986
282611
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
241934
289680
47747
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
241934
289680
47747
GRCh38
Deletion
No
schuch_19_ASD_discovery_cases-case11
N/A
M
ASD
PDD-NOS, psychomotor agitation, echolalia, mood instability.
25225955
25403615
177661
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
22677959
22725305
47346
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
23984069
24222194
238125
Unknown
Duplication
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
22677959
22725305
47346
Unknown
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
N/A
M
ADHD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
23438888
23510307
71420
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
N/A
M
ADHD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
23438888
23512095
73208
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
240560
298753
58194
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case621
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
23563263
23611017
47755
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case622
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
290977
299005
8029
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case623
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
290977
299005
8029
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case624
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
290977
299005
8029
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case625
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
290977
299005
8029
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case102591
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
24481586
24502840
21255
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
N/A
N/A
Control
No previous psychiatric history
24667814
24713060
45247
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
N/A
N/A
Control
No previous psychiatric history
25509701
25558486
48786
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
N/A
N/A
Control
No previous psychiatric history
24891922
25301030
409109
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
N/A
N/A
Control
No previous psychiatric history
24671908
24713060
41153
GRCh38
Deletion
No
guo_17_ASD_discovery_controls-controlPY4109
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
23471071
24581933
1110863
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control11242.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11242. SRS score of 48.
23692030
23695019
2990
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11028.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
267785
304135
36351
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11052.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11242.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23692030
23696688
4659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11301.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
267785
304135
36351
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11530.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11788.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
194646
273688
79043
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12367.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23692030
23696688
4659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12457.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12497.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
304135
84900
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12766.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12967.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13136.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
207901
273688
65788
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13619.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23608760
24589949
981190
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13634.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23692030
23696688
4659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14215.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14229.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
219236
273688
54453
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14493.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23895039
24098192
203154
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C37831A
N/A
F
Control
NIMH Control (NIMH ID 92135)
25231602
25357428
125827
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41783A
N/A
M
Control
NIMH Control (NIMH ID 95046)
25319765
25604455
284691
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44567
N/A
M
Control
NIMH Control (NIMH ID 29052)
25231602
25357428
125827
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
23438888
23509514
70627
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
23579240
23637155
57916
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
23756956
23771357
14402
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
23579240
23637155
57916
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11417
aCGH (Agilent 4x180K or 8x60K)
Inherited
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11417
aCGH (Agilent 4x180K or 8x60K)
Inherited
Simplex
NA
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
dabell_13_ASD/DD/ID_discovery_cases-patient36
Paternal
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
davis_09_ASD_discovery_cases-AU0039303
Unknown
Unknown
Unknown
CRYBB3, CRYBB2, IGLL3, LRP5L, DRBK2
davis_09_ASD_discovery_cases-AU008404
Unknown
Unknown
Unknown
IGLL3, LRP5
davis_09_ASD_discovery_cases-AU021903
Unknown
Unknown
Unknown
IGLL3, LRP5L, ADRBK2
davis_09_ASD_discovery_cases-AU059003
Unknown
Unknown
Unknown
LRP5, IGLL3
engchuan_15_ASD_discovery_cases-case14242_3660
Unknown
BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
engchuan_15_ASD_discovery_cases-case14242_3660
Unknown
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
engchuan_15_ASD_discovery_cases-case14291_4120
Unknown
RN7SL268P,MIF,MIF-AS1,SMARCB1,DERL3,SLC2A11
engchuan_15_ASD_discovery_cases-case5551_3
Unknown
IGLL1,DRICH1,GUSBP11
engchuan_15_ASD_discovery_cases-case6275_3
Unknown
gai_11_ASD_discovery_cases-AU1284301
Inherited
SGSM1, TMEM211, KIAA1671
girirajan_13a_ASD_discovery_cases-13804.p1
Unknown
Simplex
Unknown
LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1,GRK3
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
MMP11,SMARCB1,DERL3,SLC2A11
girirajan_13b_ASD_discovery_cases-28305103475
Unknown
Unknown
Unknown
MMP11,SMARCB1,DERL3,SLC2A11
itsara_10_ASD_discovery_cases-HI0172
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CRYBB3,TMEM211,CRYBB2,SGSM1,KIAA1671
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ARL5AP4,CRIP1P4,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,PIWIL3,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001595
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001730
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,BCR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002665
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003979
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004014
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004489
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004568
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004774
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004789
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004881
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
krumm_13_ASD_discovery_cases-case11090.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
krumm_13_ASD_discovery_cases-case11090.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
krumm_15_ASD_discovery_cases-case11031.p1
Illumina 1M
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11090.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
krumm_15_ASD_discovery_cases-case11285.p1
Illumina 1M
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11297.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11301.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case11329.p1
Illumina 1M
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11394.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11512.p1
Illumina 1M
De novo
Simplex
Segregated
krumm_15_ASD_discovery_cases-case12231.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case12361.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case12367.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GUSBP11,RGL4
krumm_15_ASD_discovery_cases-case12497.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case12669.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case12722.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case13136.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case13150.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13226.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13244.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13336.p1
1M-Duov3
Maternal
Simplex
Segregated
GUSBP11,RGL4
krumm_15_ASD_discovery_cases-case13377.p1
1M-Duov3
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13536.p1
1M-Duov3
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13804.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
krumm_15_ASD_discovery_cases-case14188.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case14215.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
kushima_18_SCZ_discovery_cases-caseSCZ0011
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
kushima_18_SCZ_discovery_cases-caseSCZ0134
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
kushima_22_BPD_discovery_cases-caseBD1731
qRT-PCR
Unknown
ADORA2A,ASLP1,DDT,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,GGT5,GGT1,GSTT2,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,ARL5AP4,BCRP1,POM121L10P,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,DDTL,GGTLC4P,MIF,MMP11,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02557,RN7SL268P,SNRPD3,SMARCB1,ZNF70,CABIN1,SPECC1L,GSTT4
kushima_22_BPD_discovery_cases-caseBD2025
qRT-PCR
Unknown
ADORA2A,ASLP1,DDT,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,GGT5,GGT1,GSTT2,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,DDTL,GGTLC4P,MIF,MMP11,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02557,RN7SL268P,SNRPD3,SMARCB1,ZNF70,CABIN1,SPECC1L,GSTT4
kushima_22_SCZ_discovery_cases-caseSCZ0011
qRT-PCR
Maternal
BCR,ADORA2A,ASLP1,DDT,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,GGT5,GGT1,GSTT2,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,ADORA2A-AS1,GSTT2B,DDTL,GGTLC4P,MIF,MMP11,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,ZNF70,CABIN1,SPECC1L,GSTT4
kushima_22_SCZ_discovery_cases-caseSCZ0134
qRT-PCR
Paternal
BCR,ADORA2A,ASLP1,DDT,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,GGT5,GGT1,GSTT2,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,DDTL,GGTLC4P,MIF,MMP11,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,ZNF70,CABIN1,SPECC1L,GSTT4
leblond_12_ASD_replication_cases-Pintocase5237_3
Both parents
leppa_16_ASD_discovery_cases-AU004104
qPCR; error in sample naming in qPCR
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
leppa_16_ASD_discovery_cases-AU1202201
Maternal
Multiplex
Not segregated (CNV not present in affected sibling AU1202202)
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
levy_11_ASD_discovery_cases-11090.p1
Maternal
Simplex
Segregated
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
levy_11_ASD_discovery_cases-11090.p1
Maternal
Simplex
Segregated
BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
maini_18_ASD/DD/ID_discovery_cases-case156
Paternal
Not simplex
Unknown
MMP11,SMARCB1
maini_18_ASD/DD/ID_discovery_cases-case213
Paternal
Simplex
Unknown
CABIN1
morrow_08_ASD_discovery_cases-case1602
Maternal
NA
NA
5' end of ADRBK2
morrow_08_ASD_discovery_cases-case1603
Maternal
NA
NA
5' end of ADRBK2
morrow_08_ASD_discovery_cases-case1604
Maternal
NA
NA
5' end of ADRBK2
morrow_08_ASD_discovery_cases-case3604
Paternal
Multiplex
NA
3' end of PIWIL3
morrow_08_ASD_discovery_cases-case3605
Paternal
Multiplex
NA
3' end of GGT1
morrow_08_ASD_discovery_cases-case6501
Unknown
NA
NA
LRP5L
morrow_08_ASD_discovery_cases-case7001
Paternal
NA
NA
IGLL1
morrow_08_ASD_discovery_cases-case7901
Maternal
NA
NA
LRP5L
morrow_08_ASD_discovery_cases-case8501
Maternal
NA
NA
LRP5L
munnich_19_ASD_discovery_cases-case32
FISH
Paternal
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ZDHHC8P1,FAM230I,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Paternal
Multi-generational
Unknown
pinchefsky_17_DD_discovery_cases-case1
FISH
De novo
Simplex
Segregated
LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
prasad_12_ASD_discovery_cases-case100555L
Unknown
Unknown
Unknown
LOC91316,RGL4
prasad_12_ASD_discovery_cases-case154266L
qPCR
Maternal
Simplex
Not segregated (deletion present in unaffected female sibling)
UPB1
prasad_12_ASD_discovery_cases-case83548L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11090.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,BCR
sanders_11_ASD_discovery_cases-11090.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
sanders_11_ASD_discovery_cases-12096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGLL1,DRICH1,GUSBP11
sanders_11_ASD_discovery_cases-12367.p1
Paternal
Simplex (quad-proband matched)
Segregated
GUSBP11,RGL4
sansovic_17_DD/ID/ASD_discovery_cases-case26
Unknown
ASLP1,VPREB3,C22orf15,CHCHD10,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
schuch_19_ASD_discovery_cases-case11
Unknown
Unknown
Unknown
IGLL3P,CRYBB2,LRP5L
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
LOC391322,GSTT1
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Maternal
Simplex (ASD), Multiplex (language delay)
Not segregated
LRP5L
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
LOC391322,GSTT1
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
Paternal
Multiplex
Segregated (CNV present in both affected twins)
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
Paternal
Multiplex
Segregated (CNV present in both affected twins)
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case621
Unknown
Unknown
Unknown
IGLL1,DRICH1
yin_16_ASD_discovery_cases-case622
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case623
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case624
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case625
Unknown
Unknown
Unknown
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case102591
RT-qPCR or WGS
De novo
ADORA2A-AS1,UPB1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
Unknown
ARL5AP4,CRIP1P4
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
Unknown
CRYBB2P1
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
Unknown
CRYBB3,TMEM211,CRYBB2,SGSM1,KIAA1671
engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
Unknown
ARL5AP4,CRIP1P4
guo_17_ASD_discovery_controls-controlPY4109
qPCR
Unknown
LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
krumm_13_ASD_discovery_controls-control11242.s1
Paternal
Simplex
GUSBP11,RGL4
krumm_15_ASD_discovery_controls-control11028.s1
Illumina 1M
De novo
krumm_15_ASD_discovery_controls-control11052.s1
Illumina 1M
De novo
krumm_15_ASD_discovery_controls-control11242.s1
Illumina 1M
Paternal
GUSBP11,RGL4
krumm_15_ASD_discovery_controls-control11301.s1
Illumina 1M
De novo
krumm_15_ASD_discovery_controls-control11530.s1
Illumina 1M
Maternal
krumm_15_ASD_discovery_controls-control11788.s1
Illumina 1MDuo
Maternal
krumm_15_ASD_discovery_controls-control12367.s1
Illumina 1MDuo
Paternal
GUSBP11,RGL4
krumm_15_ASD_discovery_controls-control12457.s1
Illumina 1MDuo
Paternal
krumm_15_ASD_discovery_controls-control12497.s1
Illumina 1MDuo
Paternal
krumm_15_ASD_discovery_controls-control12766.s1
1M-Duov3
Maternal
krumm_15_ASD_discovery_controls-control12967.s1
1M-Duov3
Maternal
krumm_15_ASD_discovery_controls-control13136.s1
Illumina 1MDuo
Maternal
krumm_15_ASD_discovery_controls-control13619.s1
Omni2.5-4v1
Maternal
ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
krumm_15_ASD_discovery_controls-control13634.s1
1M-Duov3
Maternal
GUSBP11,RGL4
krumm_15_ASD_discovery_controls-control14215.s1
Omni2.5-4v1
Maternal
krumm_15_ASD_discovery_controls-control14229.s1
Omni2.5-4v1
De novo
krumm_15_ASD_discovery_controls-control14493.s1
Omni2.5-4v1
Paternal
MIF,MIF-AS1,GSTT2B,DDT,GSTT2,DDTL,GSTT4,CABIN1
poultney_13_ASD_discovery_controls-control04C37831A
Unknown
IGLL3P,CRYBB2,LRP5L
poultney_13_ASD_discovery_controls-control05C41783A
Unknown
IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1,GRK3
poultney_13_ASD_discovery_controls-control05C44567
Unknown
IGLL3P,CRYBB2,LRP5L
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
IGLL1,DRICH1
sanders_11_ASD_discovery_controls-12347.s1
Maternal
Simplex (quad)
NA
C22orf15,CHCHD10,MMP11
sanders_11_ASD_discovery_controls-13015.s1
Maternal
Simplex (quad)
NA
IGLL1,DRICH1
No Animal Model Data Available