17q11.2CNV Type: Deletion-Duplication
Largest CNV size: 133732 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
Deletion
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
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
4524
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
25165
1
0
1
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
58569
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1050000
7
7
14
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
249255
1
2
3
dharmadhikari_14_ASD/ID_discovery_cases
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
4
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Range, 4 yrs. 2 mos.-47 yrs.
75% Male
1090000
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
173971
1
5
6
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
1
0
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
203162
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1180000
9
6
15
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
315402
1
0
1
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
204722
6
0
6
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
1457634
9
6
15
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
31655
0
1
1
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
1369
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
85460
N/A
N/A
3
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
29853
1
0
1
lintas_19_ASD_discovery_cases
First child of healthy unrelated parents with a de novo 196 kb 17q11.2 deletion affecting the PSMD11, CDK5R1, and MYO1D genes
1
Case clinically diagnosed with high-functioning ASD (diagnosis confirmed by ADOS-2 testing); additional neuropsychological and cognitive assessment performed using WAIS-IV, d2-R test, Rey complex figure test, Trail making test, Wisconsin card sorting test, Tower of London test, Eilthorn perceptual maze test, Rey auditory verbal learning task, Rey complex figure test, and Benton visual retention test.
32 years
Male
196000
1
0
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
101000
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
148346
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
16579
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
133732
4
3
7
van_Woerden_21_ASD/DD/ID_discovery_cases
Individuals with an intragenic TAOK1 variant (19) or chromosomal deletion including TAOK1 (4)
23
Affected individuals frequently presented with developmental delay, intellectual disability, behavioral disturbances (including autism spectrum disorder), and/or seizures.
Range, 14 mos.-21 yrs.
60.87% Male
2000002
4
0
4
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
37085
1
0
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
1213713
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
1232368
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
1412000
1
1
2
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
1393948
0
3
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
1050000
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
132360
1
2
3
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1180000
0
0
0
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
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
12715
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
14575
0
2
2
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
1430908
0
1
1
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
36802
0
1
1
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)
14579
1
1
2
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)
16579
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.
48704
3
3
6
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
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
dharmadhikari_14_ASD/ID_discovery_cases
2 cases from United States, 1 case from Germany, 1 case from France
aCGH
Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
lintas_19_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint G3 Human CGH 4x180K
qPCR
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
Array SNP
Various Affymetrix platforms
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
van_Woerden_21_ASD/DD/ID_discovery_cases
NA
NA
NA
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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-caseREACH000377
N/A
M
ASD
Case from REACH cohort
29498526
29503050
4525
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC07701
N/A
M
ASD
Case from SSC_phase2 cohort
29674048
29699212
25165
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11348
NA
M
ASD
NA
NA
31216595
31275164
58570
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case271
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case272
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case273
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case274
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case275
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case276
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case277
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case278
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case279
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case280
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case281
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case282
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case283
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case284
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
30838856
31888868
1050013
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case218
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
32423106
32619132
196027
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case330
NA
NA
ASD and DCD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R; case also diagnosed with developmental coordination disorder (DCD). EEG: negative.
30914162
31163416
249255
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case331
NA
NA
ASD and developmental delay
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R; case also diagnosed with global developmental delay.
30914162
31163416
249255
GRCh38
Duplication
No
dharmadhikari_14_ASD/ID_discovery_cases-case1
4 yrs. 2 mos.
M
Speech delay and behavioral problems
Birth/neonatal history: maternal complications prior to delivery (placenta previa); born at term by spontaneous vaginal delivery; birth weight of 3.2 kg. Developmental milestones: sat unassisted at 5 months, began walking at 9 months. Language and communication evaluation: speech delay; very limited in number of words used. Behavioral/psychiatric evaluation: found to be anxious, hyperactive, uncooperative, aggressive, and impulsive. Sleep disturbances: sweating at night, bedwetting. Additional medical history: complains of abdominal pain and feels naseous every 2-3 weeks (no vomiting); normal pulmonary findings; has had numerous viral upper respiratory infections; hospitalized around 18 months of age for pneumonia. Dysmorphic features: broad forehead, sparse eyebrows, mildly low-set ears, nasal features with small alae, broad tip, and broad bridge, brachydactyly of fingers and toes, one cafe-au-lait macule on left flank. Family history: third child of a non-consanguineous 20-year-old mother and 22-year-old father (both reportedly in good health with no learning, speech, or lung problems).
N/A
N/A
1090000
GRCh37
Deletion (mosaic)
Yes
engchuan_15_ASD_discovery_cases-case14210_3370
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30641132
30769803
128672
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14318_2740
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30688914
30862885
173972
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16034_1571009001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30515520
30611359
95840
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18171_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30688914
30837005
148092
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2303_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29969309
30021029
51721
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3495_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30021029
30059508
38480
GRCh38
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientS
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case690-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
30610633
30813795
203163
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case10538
NA
NA
Developmental delay
Seizure disorder, short stature, macrocephaly
Developmental delay
30768856
31948868
1180013
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case1418
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1419
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1420
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1421
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1422
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1423
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1424
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1425
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1426
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1427
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1428
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1429
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1430
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1431
NA
NA
Developmental delay
NA
NA
30768856
31948868
1180013
GRCh38
Duplication
NA
girirajan_13b_ASD_discovery_cases-23404100705
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
31907725
32223127
315403
GRCh38
Deletion
No
hu_23_ASD_discovery_cases-case12
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31337582
181601
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case13
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31360703
204722
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case3
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31360703
204722
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case4
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31360703
204722
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case7
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31330498
174517
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case8
NA
F
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
31155982
31338805
182824
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000185
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
32099761
1392898
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000600
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
31999939
1293076
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001788
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30767194
31937486
1170293
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001805
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31223174
31246335
23162
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001819
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30630734
32088380
1457647
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001904
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706863
31994624
1287762
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30893477
30993653
100177
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002319
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30667972
32023858
1355887
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002533
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30672816
31999939
1327124
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003913
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
31999939
1293076
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004077
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
31999939
1293076
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004311
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
31999939
1293076
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004545
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30613848
31875279
1261432
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004720
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30706864
31999939
1293076
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005422
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30650145
31015565
365421
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case2008
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
30190348
30222002
31655
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case13843.p1
N/A
F
ASD
ASD proband from SSC quad family 13843. SRS score of 90.
Full-scale IQ (FSIQ) score of 66.
28591697
28593066
1370
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11464.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
30784186
30804110
19925
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13133.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29676802
29695543
18742
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14459.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type: N/A
30784186
30869646
85461
GRCh38
N/A
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0955
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
28902417
28932269
29853
GRCh38
Deletion
Yes
lintas_19_ASD_discovery_cases-case1
32 yrs.
M
ASD
Case clinically diagnosed with high-functioning ASD; diagnosis confirmed by ADOS-2 testing (language and communication score 3, social interaction score 9). Birth/neonatal history: born at 42 weeks of gestation by normal delivery; birth weight 4200 g; exclusively breastfed for 3 months, weaning accomplised around the 4th month without major problems. Developmental milestones: developmental milestones achieved normally; babbling at 6 months, expressive language for single words at 14 months, first sentences at 20 months. Motor and musculoskeletal evaluation: psychomotor clumsiness noted at about 18 months; frequent falls while running; ocular motor deficits; balance problems; difficulties going up and down stairs. Behavioral/psychiatric evaluation: lack of social and emotional reciprocity, poor social abilities, impairments in spontaneous nonverbal communication, deficits in eye contact, poor facial expression, reduced mimicry, separation anxiety, pain hyposensitivity, attention deficit, oppositional behavior, repetitive and stereotyped patterns of behavior, restricted interests and activities, emotional self-regulation deficits (psychomotor agitation when frustrated). EEG: normal. Dysmorphic features: none. Family history: first child of healthy unrelated parents.
Normal intellectual profile (WAIS-IV global IQ 95, verbal IQ 94, nonverbal IQ 121); normal sustained visual attention and visuo-constructional abilities (d2-R test and Rey complex figure); executive functions in normal range (Trail making test, Tower of London, Wisconsin card sorting test, Elithorn perceptual maze test) with the exception of apparently poor phonological fluency; specific impairment in short-term verbal memory, while verbal episodic memory and word list recall were normal (Rey auditory verbal learning task); normal long-term visual memory (Rey complex figure and Benton visual retention test); no deficits in arithmetic skills or in mental calculus.
32423107
32619132
196026
GRCh38
Deletion
Yes
moreira_14_ASD/EP_discovery_cases-case9
11 yrs.
M
ASD and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular atrophy of the legs. Epilepsy/seizures: yes. Dysmorphic features: none reported. Growth parameters: height of 160 cm (>97th %ile), weight of 50.5 kg (90th-95th %ile), and head circumference of 54.5 cm (75th-98th %ile).
27647231
27748498
101268
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
28042874
28191219
148346
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case55497
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
25429686
25446264
16579
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87042
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
26493256
26507432
14177
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
30539628
30673001
133374
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
30688914
30822646
133733
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11541.p1
10.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
31181757
31226455
44699
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
29975282
29981722
6441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
31500100
31500411
312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
28440862
28473228
32367
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
28686450
28691078
4629
GRCh38
Deletion
No
van_Woerden_21_ASD/DD/ID_discovery_cases-case18
10 yrs.
M
Intellectual disability and seizures
Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: seizures. Growth parameters: macrocephaly (head circumference +3.5 SD).
Intellectual disability
29521973
29522781
809
GRCh38
Deletion
No
van_Woerden_21_ASD/DD/ID_discovery_cases-case21
7 yrs 7 mos.
F
Intellectual disability
Birth/neonatal history: postterm pregnancy (42 weeks); neonatal feeding difficulties (gastroesophageal reflux and swallowing difficulties). Motor and musculoskeletal evaluation: hypotonia, joint hypermobility. Brain imaging: Chiari I malformation, mildly dilated lateral ventricles, dilated third ventricle. Additional medical history: abdominal pain, recurrent ear infections, recurrent airway infections.
Intellectual disability
28752981
30752982
2000002
GRCh38
Deletion
No
van_Woerden_21_ASD/DD/ID_discovery_cases-case22
6 yrs. 10 mos.
M
ASD
Birth/neonatal history: pregnancy complicated by hypertension; delivery by caesarean section due to failure to progress. Motor and musculoskeletal evaluation: central hypotonia with peripheral hypertonia. Behavioral/psychiatric evaluation: autism. Additional medical history: strabismus, constipation, atrial septal defect, ventricular septal defect, recurrent airway infections. Family history: patient's mother had a history of cognitive impairment.
29343419
29607269
263851
GRCh38
Deletion
No
van_Woerden_21_ASD/DD/ID_discovery_cases-case23
1 yr. 9 mos.
F
Developmental delay
Developmental milestones: developmental delay, delayed ability to sit (10 months), delayed ability to walk (walking with support at 21 months). Motor and musculoskeletal evaluation: short fifth fingers bilaterally. Dysmorphic features: flat facial profile, dolichocephaly, hypertelorism, short philtrum, flat nasal bridge, low-set and posteriorly rotated ears. Growth parameters: decreased body weight (-3 SD), microcephaly (head circumference -3 SD) (patient 23 in this report). Note: this patient had previously been reported in Xie et al., 2016 (PMID 27247625).
28737267
30434829
1697563
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case42
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
32448743
32485827
37085
GRCh38
Deletion
No
wolfe_16_ID_discovery_cases-DECIPHER327132
57 yrs.
M
Intellectual disability, ASD, and OCD
Psychiatric history: autistic spectrum disorder (ASD), challenging behavior. Mini PAS-ADD evaluation: anxiety disorder, hypomania, obsessive compulsive disorder (OCD). BPI-S evaluation: at least weekly self-injurious behavior, aggressive/destructive behavior, and stereotyped behavior. Medical history: pacemaker in situ (long Q-T syndrome), hypothyroidism, hypercholesterolemia, cataracts. Dysmorphic features: abnormalities of the figners. Growth parameters: height 179 cm, head circumference 60 cm. Ethnicity: white (British).
Severe intellectual disability
30741126
31954837
1213712
GRCh38
Deletion
Yes
yap_21_ASD_discovery_cases-case1101637
NA
M
ASD and ADHD
Medicated for sleep, anxiety, ADHD; short for age (140 cm at 12 years of age)
WISC 10th %ile
30784349
32016716
1232368
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0347-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: NF1; ADHD; learning in low average range
31142982
31156982
14001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0683-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
30670982
32082981
1412000
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0683-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
30670848
32064794
1393947
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case139979
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
30524832
31157284
632453
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case185285
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability
31030569
31113536
82968
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-controlB393761_1007852612
N/A
N/A
Control
No previous psychiatric history
30455972
30588332
132361
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB476506_1007852940
N/A
N/A
Control
No previous psychiatric history
28560110
28599826
39717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
N/A
N/A
Control
No previous psychiatric history
28954962
29017412
62451
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11484.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11484. SRS score of 43.
30984616
30997331
12716
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13843.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13843. SRS score of 42.
28591697
28593066
1370
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11484.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30984616
30999191
14576
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12299.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30984616
30999191
14576
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1782
29 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
30636641
32067548
1430908
GRCh38
Duplication
N/A
levy_11_ASD_discovery_controls-11258.s1
NA
F
Control
NA
NA
31362460
31399261
36802
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39104A
N/A
M
Control
NIMH Control (NIMH ID 78120)
27645859
27648984
3126
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C42882
N/A
M
Control
NIMH Control (NIMH ID 48943)
30984615
30999193
14579
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
30539628
30588332
48705
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11258.s1
10.8
F
Control (matched sibling)
NA
NA
31362412
31397690
35279
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
29975282
29981722
6441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
30974590
30992938
18349
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
29975282
29981722
6441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
29975282
29979751
4470
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-caseREACH000377
PCR or SNP data validation (SNP VCF)
De novo
TAOK1
brandler_18_ASD_replication_cases-caseSSC07701
No validation step reported
Paternal
ABHD15-AS1,SSH2
celestino-soper_11_ASD_discovery_cases-11348
Unknown
Simplex
NA
OMG,NF1
coe_14_ASD/DD/ID_discovery_cases-case271
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case272
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case273
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case274
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case275
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case276
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case277
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case278
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case279
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case280
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case281
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case282
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case283
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case284
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,ADAP2,NF1,RAB11FIP4
cucinotta_23_ASD_discovery_cases-case218
De novo
MYO1D,PSMD11,CDK5R1
cucinotta_23_ASD_discovery_cases-case330
Paternal
ADAP2,RNF135,DPRXP4,NF1,MIR4733,RN7SL138P,MIR4733HG
cucinotta_23_ASD_discovery_cases-case331
Paternal
ADAP2,RNF135,DPRXP4,NF1,MIR4733,RN7SL138P,MIR4733HG
dharmadhikari_14_ASD/ID_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
Deletion contains NF1
engchuan_15_ASD_discovery_cases-case14210_3370
Unknown
RN7SL316P,SUZ12P1,SMURF2P1-LRRC37BP1,CRLF3
engchuan_15_ASD_discovery_cases-case14318_2740
Unknown
RN7SL316P,RNU6-298P,SUZ12P1,ATAD5,CRLF3
engchuan_15_ASD_discovery_cases-case16034_1571009001
Unknown
KRT17P3,GOSR1,SMURF2P1,ALOX12P1,SMURF2P1-LRRC37BP1
engchuan_15_ASD_discovery_cases-case18171_302
Unknown
RN7SL316P,SUZ12P1,ATAD5,CRLF3
engchuan_15_ASD_discovery_cases-case2303_1
Unknown
EFCAB5
engchuan_15_ASD_discovery_cases-case3495_3
Unknown
RNY4P13,EFCAB5
gannon_11_ASD/DD_discovery_cases-patientS
Unknown
Unknown
NA
gazzellone_14_ASD_discovery_cases-case690-3
Unknown
Unknown
Unknown
SH3GL1P2,LRRC37BP1,RN7SL316P,SMURF2P1,SUZ12P1,SMURF2P1-LRRC37BP1,CRLF3
girirajan_12_ASD/DD/ID_discovery_cases-case10538
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1418
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1419
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1420
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1421
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1422
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1423
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1424
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1425
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1426
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1427
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1428
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1429
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1430
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1431
NA
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
girirajan_13b_ASD_discovery_cases-23404100705
Unknown
Unknown
Unknown
RNA5SP437,SH3GL1P1,WDR45BP1,ARGFXP2,LRRC37B,SUZ12,RHOT1
hu_23_ASD_discovery_cases-case12
qPCR/MLPA
Unknown
EVI2A,EVI2B,OMG,NF1
hu_23_ASD_discovery_cases-case13
qPCR/MLPA
Unknown
AK4P1,EVI2A,EVI2B,OMG,NF1
hu_23_ASD_discovery_cases-case3
qPCR/MLPA
Unknown
AK4P1,EVI2A,EVI2B,OMG,NF1
hu_23_ASD_discovery_cases-case4
qPCR/MLPA
Unknown
AK4P1,EVI2A,EVI2B,OMG,NF1
hu_23_ASD_discovery_cases-case7
qPCR/MLPA
Unknown
EVI2A,EVI2B,OMG,NF1
hu_23_ASD_discovery_cases-case8
qPCR/MLPA
Unknown
EVI2A,EVI2B,OMG,NF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000185
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000600
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001788
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001805
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001819
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001904
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL138P,DPRXP4,ATAD5,TEFM,RNF135,ADAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002319
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002533
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003913
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004077
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004311
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004545
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SH3GL1P2,LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SMURF2P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004720
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005422
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,SUZ12P1,ATAD5,TEFM,RNF135,SMURF2P1-LRRC37BP1,CRLF3,ADAP2
kanduri_15_ASD_discovery_cases-case2008
De novo
Unknown
Unknown
UTP6
krumm_13_ASD_discovery_cases-case13843.p1
Paternal
Simplex
Not segregated
SPAG5
krumm_15_ASD_discovery_cases-case11464.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SUZ12P1,CRLF3
krumm_15_ASD_discovery_cases-case13133.p1
1M-Duov3
Paternal
Simplex
Segregated
ABHD15-AS1,SSH2
krumm_15_ASD_discovery_cases-case14459.p1
aCGH
De novo
Simplex
Likely segregated
RNU6-298P,SUZ12P1,ATAD5,CRLF3
kushima_22_SCZ_discovery_cases-caseSCZ0955
qRT-PCR
Unknown
PHF12,DHRS13
lintas_19_ASD_discovery_cases-case1
qPCR
De novo
PSMD11,CDK5R1,MYO1D
Reduced CDK5R1 mRNA levels in case's PBMCs compared to controls (p < 0.01)
moreira_14_ASD/EP_discovery_cases-case9
Unknown
Unknown
Unknown
CPDP1,LGALS9,LGALS9DP,NOS2P1
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPS29P22,NLK
prasad_12_ASD_discovery_cases-case55497
Unknown
Unknown
Unknown
EFCAB5
prasad_12_ASD_discovery_cases-case87042
qPCR
Maternal
Unknown
Unknown
NF1
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRT17P3,SH3GL1P2,LRRC37BP1,SMURF2P1,ALOX12P1,SMURF2P1-LRRC37BP1
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
RN7SL316P,SUZ12P1,CRLF3
sanders_11_ASD_discovery_cases-11541.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NF1
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EFCAB5
sanders_11_ASD_discovery_cases-12078.p1
Paternal
Simplex (quad-proband matched)
Segregated
RAB11FIP4
sanders_11_ASD_discovery_cases-12359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS7P1
sanders_11_ASD_discovery_cases-12671.p1
Unknown
Simplex (quad-proband matched)
Segregated
SUPT6H
van_Woerden_21_ASD/DD/ID_discovery_cases-case18
De novo
TAOK1
van_Woerden_21_ASD/DD/ID_discovery_cases-case21
Unknown
ALOX12P1,BLMH,FLOT2,CPD,CRYBA1,ERAL1,GIT1,PIPOX,FAM222B,TAOK1,NUFIP2,PHF12,NSRP1,TP53I13,CORO6,SSH2,ABHD15,ANKRD13B,SEZ6,LRRC37BP1,DHRS13,EFCAB5,TMIGD1,MYO18A,MIR144,SUZ12P1,MIR423,TWF1P1,MIR451A,KRT17P3,RPL9P30,RPL21P123,RPL35AP35,RPL31P58,RNY4P13,MIR3184,MIR4732,MIR4523,MIR451B,ABHD15-AS1,RN7SL316P,SH3GL1P2,SLC6A4,RNU4-34P,RNU6-711P,RNU6-990P,RNU6-1034P,RNU6-920P,RNU6-1267P,SMURF2P1,GOSR1,TIAF1,TBC1D29P
van_Woerden_21_ASD/DD/ID_discovery_cases-case22
Maternal
GIT1,TAOK1,TP53I13,ABHD15,ANKRD13B,MIR4523,ABHD15-AS1,RNU4-34P,RNU6-711P,RNU6-1034P
van_Woerden_21_ASD/DD/ID_discovery_cases-case23
De novo
Simplex
BLMH,FLOT2,CPD,CRYBA1,ERAL1,GIT1,PIPOX,FAM222B,TAOK1,NUFIP2,PHF12,NSRP1,TP53I13,CORO6,SSH2,ABHD15,ANKRD13B,SEZ6,DHRS13,NEK8,EFCAB5,TMIGD1,MYO18A,MIR144,MIR423,TWF1P1,MIR451A,RPL9P30,RPL21P123,RPL35AP35,RPL31P58,RNY4P13,MIR3184,MIR4732,MIR4523,MIR451B,ABHD15-AS1,SLC6A4,RNU4-34P,RNU6-711P,RNU6-990P,RNU6-1034P,RNU6-920P,RNU6-1267P,TRAF4,TIAF1
wenger_16_ASD_discovery_cases-case42
Unknown
PSMD11
wolfe_16_ID_discovery_cases-DECIPHER327132
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
yap_21_ASD_discovery_cases-case1101637
Unknown
AK4P1,EVI2A,EVI2B,CRLF3,COPRS,ADAP2,UTP6,TEFM,ATAD5,RAB11FIP4,RNF135,LRRC37B,MIR193A,SUZ12P1,DPRXP4,MIR365B,NF1,OMG,GPR160P2,MIR4733,MIR4724,MIR4725,RNA5SP437,RNU6-1134P,RNU6ATAC7P,RN7SL79P,RNU6-298P,RN7SL138P,RN7SL45P,SUZ12
yuen_17_ASD_discovery_cases-case1-0347-003
Agilent 1M
Maternal
Simplex
Unknown
NF1
yuen_17_ASD_discovery_cases-case1-0683-003
Affymetrix CytoScan HD
Paternal
Multiplex
Not segregated
RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0683-003
RT-qPCR or WGS
Paternal
RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case139979
RT-qPCR or WGS
Unknown
KRT17P3,SH3GL1P2,LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,GOSR1,TBC1D29P,SMURF2P1,SUZ12P1,ATAD5,TEFM,RNF135,ALOX12P1,CRLF3,ADAP2,NF1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case185285
RT-qPCR or WGS
Unknown
MIR4733,NF1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB393761_1007852612
Unknown
KRT17P3,GOSR1,ALOX12P1,SMURF2P1-LRRC37BP1,CPD
engchuan_15_ASD_discovery_controls-controlB476506_1007852940
Unknown
PIGS,SPAG5,SPAG5-AS1,ALDOC
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
Unknown
PIPOX,SEZ6
krumm_13_ASD_discovery_controls-control11484.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
RNF135
krumm_13_ASD_discovery_controls-control13843.s1
Paternal
Simplex
SPAG5
krumm_15_ASD_discovery_controls-control11484.s1
Illumina 1M
Paternal
RNF135
krumm_15_ASD_discovery_controls-control12299.s1
Illumina 1MDuo
Paternal
RNF135
kushima_18_ASD/SCZ_discovery_controls-controlCON1782
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,SUZ12,RAB11FIP4
levy_11_ASD_discovery_controls-11258.s1
Maternal
Simplex
NA
NF1,RAB11FIP4
poultney_13_ASD_discovery_controls-control05C39104A
Unknown
LGALS9
poultney_13_ASD_discovery_controls-control05C42882
Unknown
RNF135
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
KRT17P3,ALOX12P1,SMURF2P1-LRRC37BP1
sanders_11_ASD_discovery_controls-11258.s1
Maternal
Simplex (quad)
NA
NF1,RAB11FIP4
sanders_11_ASD_discovery_controls-11330.s1
Maternal
Simplex (quad)
NA
EFCAB5
sanders_11_ASD_discovery_controls-11484.s1
Paternal
Simplex (quad)
NA
DPRXP4,RNF135
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
EFCAB5
sanders_11_ASD_discovery_controls-12096.s1
Paternal
Simplex (quad)
NA
EFCAB5
No Animal Model Data Available