16p12.2CNV Type: Deletion-Duplication
Largest CNV size: 221013 bp
Statistics Box:
Number of Reports: 25
Number of Reports: 25
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
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
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
238000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
406000
1
1
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
141149
2
3
5
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
601824
3
0
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)
165056
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
355000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
139696
2
0
2
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
486690
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
118286
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
643473
4
4
8
lengyel_20_ASD/DD/ID_discovery_cases
Children referred to genetic counseling with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms
73
Cases presented with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms, including autism spectrum disorder
N/A
N/A
527363
1
1
2
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
140198
1
0
1
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
165000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
149000
2
0
2
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1065521
1
1
2
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
1088574
5
1
6
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
141150
0
2
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
138501
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)
123750
3
0
3
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
669954
4
2
6
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
189863
2
1
3
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
2
1
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
141150
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
221013
3
1
4
yamamoto_14_DD/ID/EP_discovery_cases
Patients with microdeletions involving the 15q22.2 region presenting with neurological symptoms
4
Developmental delay/intellectual disability (all 4 cases), epilepsy (3 cases), and autistic features (1 case)
Range, 3-14 yrs.
50% Male
429000
0
1
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
143975
1
0
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
507999
5
0
5
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
172472
2
9
11
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
244599
1
2
3
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
202499
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
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
230869
1
1
2
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
139861
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
147896
5
4
9
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)
420890
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
11636
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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)
lengyel_20_ASD/DD/ID_discovery_cases
Hungarian
aCGH
NimbleGen Array CGX 1.4M, Agilent 60K, Agilent 180K
NimbleGen MS 200 Microarray Scanner, Agilent Genomic Workbench v.7.0, Agilent Genomic Workbench Lite
None
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yamamoto_14_DD/ID/EP_discovery_cases
N/A
aCGH
Agilent 60K, Agilent 44K
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
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)
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_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
battaglia_13_DD/ID/ASD_discovery_cases-case48
4 yrs. 9 mos.
F
Autism and developmental delay/intellectual disability
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
21588366
21826230
237865
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300202
N/A
F
Cognitive impairment
Cognitive impairment
21588366
21728564
140199
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300770
N/A
M
ASD
Autism spectrum disorder
21962441
22368876
406436
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case20150_1630001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21587804
21728953
141150
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5065_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21587804
21728953
141150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5208_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21590453
21728953
138501
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5507_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21587804
21728953
141150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8549_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21587804
21728953
141150
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259114
N/A
F
Intellectual disability
Microcephaly; Intellectual disability
21302928
21904752
601825
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259571
N/A
F
Learning disability
Synophrys; Early onset of puberty; Persistence of primary teeth; Specific learning disability; Preauricular skin tag; Epicanthus; Hypertelorism; Dental crowding
21837283
22417043
579761
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262966
N/A
M
Developmental delay
Global developmental delay; Microcephaly; Clinodactyly of the 5th finger; Short nose
21904692
22417043
512352
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI2741
NA
NA
Autism
NA
NA
21563897
21728953
165057
GRCh38
Deletion
Yes
kalsner_17_ASD_discovery_cases-case17
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
21463718
21818736
355019
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002311
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21600992
21740688
139697
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003983
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21600992
21726646
125655
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1942
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.
21949122
22435811
486690
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case12162.p1
N/A
M
ASD
ASD proband from SSC quad family 12162. SRS score of 77.
Full-scale IQ (FSIQ) score of 67.
21624930
21726658
101729
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12441.p1
N/A
M
ASD
ASD proband from SSC quad family 12441. SRS score of 90.
Full-scale IQ (FSIQ) score of 28.
21644289
21752505
108217
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12697.p1
N/A
M
ASD
ASD proband from SSC quad family 12697. SRS score of 80.
Full-scale IQ (FSIQ) score of 85.
21644289
21757277
112989
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13139.p1
N/A
M
ASD
ASD proband from SSC quad family 13139. SRS score of 73.
Full-scale IQ (FSIQ) score of 127.
21612644
21730930
118287
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11834.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
21953423
22374309
420887
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11841.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
21612644
21752505
139862
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12162.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21624930
21728431
103502
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13139.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21612644
21726658
114015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13657.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
21612644
21726658
114015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14280.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21624930
21726658
101729
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14433.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21953423
22365014
411592
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14470.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21730836
22374309
643474
GRCh38
Duplication
Yes
lengyel_20_ASD/DD/ID_discovery_cases-case1
10 yrs.
M
ASD and intellectual disability
Case reported in DECIPHER database (DECIPHER ID 411579). Birth/neonatal history: born at 37 weeks gestation by caesarean section (maternal indication); Apgar scores 8/8/10. Developmental milestones: developmental regression at 2 years with complete loss of expressive speech. Behavioral/psychiatric evaluation: clinical diagnosis of ASD at 10 years; self-injurious behavior, aggressive behavior. EEG: normal. Brain imaging: normal. Additional medical history: food polyallergy. Growth parameters: macrocephaly.
Intellectual disability
21555388
21728478
173091
GRCh38
Deletion
No
lengyel_20_ASD/DD/ID_discovery_cases-case2
3 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: born at 39 weeks gestation; birth weight 3650 grams; Apgar scores 9/10. Developmental milestones: developmental delay, motor delay, developmental regression. Language and communication evaluation: loss of speech. Motor and musculoskeletal evaluation: generalized muscular hypotonia; hypoplasia of the musculature; ataxia; dyssynergia; joint hypermobility. Behavioral/psychiatric evaluation: stereotypy (stereotypical hand movements), bruxism. EEG: normal. Brain imaging: abnormal myelination. Additional medical history: feeding difficulties. Dysmorphic features: strabismus, sparse eyebrows, sparse eyelashes, epicanthus, short neck, low posterior hairline.
Intellectual disability
21941831
22469193
527363
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case8.1
N/A
N/A
Asperger syndrome
No additional clinical information available
21588366
21728564
140199
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown51
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
21563587
21728564
164978
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1072Proband10780
N/A
M
ASD
Additional clinical profile info N/A
ID
21579836
21728910
149075
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam789Proband9996
N/A
M
ASD
Additional clinical profile info N/A
ID
21587804
21728910
141107
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case11
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microdeletion syndrome
21599534
21730931
131398
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case140
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: OTOA deletion / Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
21726522
22792043
1065522
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case4
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microduplication syndrome
21612644
21819175
206532
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case112
N/A
N/A
Non-NDD
Disease cohort: renal disoder. Description: 16p11.2-p12.2 microdeletion syndrome
21726522
22815096
1088575
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case26
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: OTOA deletion
21278081
21957319
679239
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case28
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: homozygous OTOA deletion
21302977
21953457
650481
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case58
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: 16p11.2-p12.2 microduplication syndrome
21730836
22792043
1061208
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case86
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: 16p11.2-p12.2 microdeletion syndrome
21730836
22815096
1084261
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case91
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: heterozygous OTOA deletion
21315883
21953457
637575
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
21587804
21728953
141150
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5208_3
NA
M
ASD
Low average language, no epilepsy; mother treated with valproic acid for epilepsy during pregnancy, fetal tachycardia during labor, forceps delivery at 33 1/2 wks, poor respiratory effort, on ventilation; CT scan: mild cortical atrophy, normal EEGs; neurological exam: tight hamstrings, toe walking; dysmorphic features: thin upper lip, small chin, flattened nasolabial fold, flattened occiput, small hands/fingers, lingual frenulum
Above average nonverbal IQ
21590453
21728953
138501
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8549_201
N/A
M
ASD
Autism on ADI-R and ADOS; height and weight normal; front teeth protruding and conspicuous, no other dysmorphic features; astigmatism; fitted with splints for aberrant leg growth and mild deformation of hips at 18 mo; no epilepsy; brain CT at 8 y: mild dilatation of occipital horn of the left ventricle and mild atrophy in that region. Family history: father has reading difficulty and may have social impairment; mother with macular degeneration and mood disorder.
Average IQ (VIQ 101, PIQ 107, FSIQ 104)
21590453
21728953
138501
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2115A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU058304; NDAR ID NDAR_INVUY327HPB)
21612643
21736392
123750
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3447A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1252301; NDAR ID NDAR_INVMY700DPC)
21612643
21736392
123750
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3730A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)
21233736
21269893
36158
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_287
7 yrs.
M
Intellectual disability and ADHD
ADHD, microcephaly
Intellectual disability
21565481
21830033
264553
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_339
4 yrs.
M
Intellectual disability
Severe language disorder. CNV inherited from unaffected parent.
Intellectual disability
21750083
22420036
669954
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_361
16 yrs.
M
Intellectual disability and epilepsy
Epilepsy
Intellectual disability
21565481
21841611
276131
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_444
8 yrs.
M
Intellectual disability
Microcephaly
Intellectual disability
21790568
22420036
629469
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_508
7 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
21565481
21805222
239742
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_563
8 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
21584978
21806601
221624
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case26073
NA
NA
ASD
NA
NA
21509120
21698983
189863
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case26715
NA
NA
ASD
NA
NA
21482208
21641889
159681
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case29295
NA
NA
ASD
NA
NA
21509120
21698983
189863
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
21587804
21728953
141150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
21345099
21566112
221014
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
20952345
20963981
11637
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
20948596
20963981
15386
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
20952345
20963981
11637
GRCh38
Deletion
No
yamamoto_14_ID/EP_discovery_cases-case4
14 yrs.
M
Intellectual disability, epilepsy, and autistic features
Case present in DECIPHER database (DECIPHER ID #270602). Birth/neonatal history: born at 41 weeks of gestation; birth weight of 3400 g (M), length of 52 cm (+2.0 SD), and OFC of 35 cm (M); unremarkable pregnancy. Developmental milestones: head control and following things with his eyes at 4 months; started to walk at age of 24 months; significant delay in language development. Language and communication evaluation: able to speak about 50 meaningful words at age of 11 years. Motor and musculoskeletal evaluation: short hands, pes cavus. Behavioral/psychiatric evaluation: autistic features; no reported sleep disturbances, no abnormal eating behavior. Epilepsy/seizures: patient started to show seizure attacks associated with drooling, which were intractable to antiepileptic treatment, at 3 months of age. Other features: ophthalmological surgery performed to correct strabismus at age of 9 years; puberty has not started in patient. Dysmorphic features: square face, prominent forehead, short philtrum, pointed chin, brachycephaly, downturned corners of mouth, deep-set eyes, prominent ears, strabismus (surgically corrected).
Mild-moderate intellectual disability; estimated developmental quotient of 50
21940058
22368876
428819
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case9943
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
21584978
21728953
143976
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0517-009
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Speech Language Delay - Communication Skills Problem; receptive/expressive language delay
21929880
22437879
508000
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0289-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
21932679
22436679
504001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0289-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
21932679
22436679
504001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-caseAU3996301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
21931680
22437879
506200
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3996302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
21931680
22437879
506200
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
N/A
N/A
Control
No previous psychiatric history
21587804
21728953
141150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB410426_1007840271
N/A
N/A
Control
No previous psychiatric history
21563897
21728953
165057
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
N/A
N/A
Control
No previous psychiatric history
21566112
21728953
162842
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB521946_1007854330
N/A
N/A
Control
No previous psychiatric history
21587804
21747375
159572
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB690307_1007841030
N/A
N/A
Control
No previous psychiatric history
21587804
21728953
141150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB719140_1007853740
N/A
N/A
Control
No previous psychiatric history
21590453
21728953
138501
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
N/A
N/A
Control
No previous psychiatric history
21587804
21728953
141150
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900509_900509
N/A
N/A
Control
No previous psychiatric history
21579252
21728953
149702
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901119_901119
N/A
N/A
Control
No previous psychiatric history
21579252
21728953
149702
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902462_902462
N/A
N/A
Control
No previous psychiatric history
21563897
21736369
172473
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
N/A
N/A
Control
No previous psychiatric history
21579252
21728953
149702
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_122
NA
NA
Control
NA
NA
21523080
21725579
202500
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
21608493
21725579
117087
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_208
NA
NA
Control
NA
NA
21520157
21764756
244600
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-55209112484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21523080
21725579
202500
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1240
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
21608472
21839340
230869
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split646
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
21608472
21737626
129155
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12100.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12100. SRS score of 38.
23068045
23106487
38443
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13139.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13139. SRS score of 39.
21612644
21752505
139862
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12100.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23068045
23106487
38443
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12972.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23445047
23470165
25119
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13139.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21612644
21726658
114015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13239.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22008301
22080880
72580
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13279.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21624930
21760540
135611
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13497.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21644289
21752505
108217
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13842.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22008301
22080880
72580
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13938.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21612644
21760540
147897
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14075.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21612644
21726658
114015
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C30251A
N/A
M
Control
NIMH Control (NIMH ID 18125)
21953422
22374311
420890
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
20952345
20963981
11637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12367.s1
9.3
F
Control (matched sibling)
NA
NA
20952996
20963981
10986
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case48
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,METTL9,OTOA
digregorio_17_DD/ID_discovery_cases-DECIPHER_300202
qPCR
Paternal
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
digregorio_17_DD/ID_discovery_cases-DECIPHER_300770
qPCR
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_cases-case20150_1630001
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_cases-case5065_3
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_cases-case5208_3
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_cases-case5507_4
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_cases-case8549_201
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259114
De novo
Simplex
Segregated
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,CRYM,CRYM-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,SMG1P3,METTL9,OTOA,SMG1P4
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259571
Maternal
Multiplex
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262966
Maternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
itsara_10_ASD_discovery_cases-HI2741
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
kalsner_17_ASD_discovery_cases-case17
Unknown
Unknown
Unknown
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,SMG1P3,METTL9,OTOA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002311
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003983
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
kanduri_15_ASD_discovery_cases-case1942
Paternal
Unknown
Unknown
C16orf52,CDR2,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A
krumm_13_ASD_discovery_cases-case12162.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_13_ASD_discovery_cases-case12441.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
IGSF6,METTL9,OTOA
krumm_13_ASD_discovery_cases-case12697.p1
Paternal
Simplex
Segregated
IGSF6,METTL9,OTOA
krumm_13_ASD_discovery_cases-case13139.p1
Maternal
Simplex
Not segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case11834.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,VWA3A,EEF2K,CDR2,MOSMO
krumm_15_ASD_discovery_cases-case11841.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case12162.p1
Illumina 1MDuo
De novo
Simplex
Segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case13139.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case13657.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case14280.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_cases-case14433.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,VWA3A,EEF2K,CDR2,MOSMO
krumm_15_ASD_discovery_cases-case14470.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
lengyel_20_ASD/DD/ID_discovery_cases-case1
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
lengyel_20_ASD/DD/ID_discovery_cases-case2
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
lintas_17_ASD_discovery_cases-case8.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
maini_18_ASD/DD/ID_discovery_cases-case_unknown51
Maternal
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
nava_13_ASD_discovery_cases-Fam1072Proband10780
Unknown
Simplex
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
nava_13_ASD_discovery_cases-Fam789Proband9996
Unknown (not maternal), absent in 2 affected brothers
Multiplex
Not segregated
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
pfundt_16_NDD_discovery_cases-case11
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
pfundt_16_NDD_discovery_cases-case140
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
pfundt_16_NDD_discovery_cases-case4
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,METTL9,OTOA
pfundt_16_nonNDD_discovery_cases-case112
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
pfundt_16_nonNDD_discovery_cases-case26
Array SNP (Affymetrix CytoScan HD)
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,CRYM,CRYM-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,SMG1P3,METTL9,OTOA,SMG1P4
pfundt_16_nonNDD_discovery_cases-case28
Array SNP (Affymetrix CytoScan HD)
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,CRYM,CRYM-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,SMG1P3,METTL9,OTOA,SMG1P4
pfundt_16_nonNDD_discovery_cases-case58
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
pfundt_16_nonNDD_discovery_cases-case86
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
pfundt_16_nonNDD_discovery_cases-case91
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,CRYM-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,SMG1P3,METTL9,OTOA,SMG1P4
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
pinto_10_ASD_discovery_cases-case5208_3
Agilent1M
maternal
Multiplex
NA
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
pinto_14_ASD_discovery_cases2-case8549_201
qPCR
De novo
Unknown
(1 healthy sister, not tested)
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
poultney_13_ASD_discovery_cases-case01HI2115A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
poultney_13_ASD_discovery_cases-case04HI3447A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
poultney_13_ASD_discovery_cases-case05HI3730A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ANKS4B,CRYM
quintela_17_DD/ID_discovery_cases-caseID_287
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,METTL9,OTOA
quintela_17_DD/ID_discovery_cases-caseID_339
Maternal
Unknown
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
quintela_17_DD/ID_discovery_cases-caseID_361
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,NPIPB4,METTL9,OTOA
quintela_17_DD/ID_discovery_cases-caseID_444
Unknown
Unknown
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
quintela_17_DD/ID_discovery_cases-caseID_508
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,METTL9,OTOA
quintela_17_DD/ID_discovery_cases-caseID_563
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,RRN3P1,METTL9,OTOA
rosenfeld_10_ASD_discovery_cases-case26073
FISH
Paternal
Unknown
Unknown
METTL9,IGSF6,OTOA
rosenfeld_10_ASD_discovery_cases-case26715
FISH
Unknown
Unknown
Unknown
METTL9,IGSF6,OTOA
rosenfeld_10_ASD_discovery_cases-case29295
FISH
Paternal
Unknown
Unknown
METTL9,IGSF6,OTOA
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
MIR3680-1,SLC7A5P2,SNX29P1,NPIPB3,SMG1P3
sanders_11_ASD_discovery_cases-11859.p1
Unknown
Simplex (trio)
NA
DNAH3
sanders_11_ASD_discovery_cases-12296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DNAH3
sanders_11_ASD_discovery_cases-12367.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DNAH3
yamamoto_14_ID/EP_discovery_cases-case4
Inherited
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,VWA3A,EEF2K,CDR2,MOSMO
yingjun_17_ASD_discovery_cases-case9943
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
yuen_17_ASD_discovery_cases-case1-0517-009
Affymetrix CytoScan HD
Unknown
Multiplex
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
yuen_17_ASD_discovery_cases-case2-0289-003
Illumina1M
Maternal
Multiplex
Possibly segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
yuen_17_ASD_discovery_cases-case2-0289-004
Agilent 1M
Maternal
Multiplex
Possibly segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
yuen_17_ASD_discovery_cases-caseAU3996301
Not available
Unknown
Multiplex
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
yuen_17_ASD_discovery_cases-caseAU3996302
Not available
Unknown
Multiplex
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlB410426_1007840271
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlB521946_1007854330
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlB690307_1007841030
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlB719140_1007853740
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlHABC_900509_900509
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlHABC_901119_901119
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlHABC_902462_902462
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
girirajan_11_ASD_discovery_controls-NIMH_122
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
girirajan_11_ASD_discovery_controls-NIMH_123
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
girirajan_11_ASD_discovery_controls-NIMH_208
Unknown
SLC7A5P2,RNU6-1005P,RNU6-196P,IGSF6,SMG1P3,METTL9,OTOA
girirajan_13b_ASD_discovery_controls-55209112484
Unknown
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
kanduri_15_ASD_discovery_controls-control_split1240
Unknown
IGSF6,METTL9,OTOA
kanduri_15_ASD_discovery_controls-control_split646
Unknown
IGSF6,METTL9,OTOA
krumm_13_ASD_discovery_controls-control12100.s1
Paternal
Simplex
USP31
krumm_13_ASD_discovery_controls-control13139.s1
Maternal
Simplex
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_controls-control12100.s1
Illumina 1MDuo
Paternal
USP31
krumm_15_ASD_discovery_controls-control12972.s1
Illumina 1MDuo
De novo
COG7,GGA2
krumm_15_ASD_discovery_controls-control13139.s1
1M-Duov3
Maternal
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_controls-control13239.s1
1M-Duov3
Paternal
MOSMO
krumm_15_ASD_discovery_controls-control13279.s1
Omni2.5-4v1
Paternal
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_controls-control13497.s1
1M-Duov3
Paternal
IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_controls-control13842.s1
Omni2.5-4v1
Maternal
MOSMO
krumm_15_ASD_discovery_controls-control13938.s1
Omni2.5-4v1
Maternal
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
krumm_15_ASD_discovery_controls-control14075.s1
Omni2.5-4v1
Maternal
RNU6-1005P,RNU6-196P,IGSF6,METTL9,OTOA
poultney_13_ASD_discovery_controls-control04C30251A
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,VWA3A,EEF2K,CDR2,MOSMO
sanders_11_ASD_discovery_controls-11470.s1
Unknown
Simplex (quad)
NA
DNAH3
sanders_11_ASD_discovery_controls-12367.s1
Unknown
Simplex (quad)
NA
DNAH3
No Animal Model Data Available