1q21.3CNV Type: Deletion-Duplication
Largest CNV size: 37270 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
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
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
30626
5
0
5
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
25495
0
1
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
35974
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
303630
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
76399
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
460240
3
1
4
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
66299
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
332229
2
5
7
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
78060
0
2
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
30889
0
2
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
130000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
75717
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
778005
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
237338
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)
164881
1
1
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
55940
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
37270
9
13
22
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
28767
1
0
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
28767
1
0
1
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
56000
1
0
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
29785
0
2
2
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
49360
0
1
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
31068
2
0
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
72804
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
466463
6
4
10
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
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
11362
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
476630
2
2
4
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
33211
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)
172663
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
23052
6
5
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
celestino-soper_11_ASD_discovery_cases-11075
NA
M
ASD
NA
NA
153816212
153816357
146
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11411
NA
M
ASD
NA
NA
153816212
153816357
146
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11417
NA
M
ASD
NA
NA
152583123
152613749
30627
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11458
NA
M
ASD
NA
NA
152600772
152613817
13046
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11466
NA
M
ASD
NA
NA
153001662
153001837
176
GRCh38
Deletion
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
152583973
152609468
25496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20178_1701001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152655447
152691421
35975
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-40208110630
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
152308249
152611879
303631
GRCh38
Deletion
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-455-04
N/A
M
ASD
151359601
151436000
76400
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001949
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153939571
153978276
38706
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002655
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153759563
154219803
460241
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004135
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153699434
153981614
282181
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004141
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153641117
153752390
111274
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12691.p1
N/A
F
ASD
ASD proband from SSC quad family 12691. SRS score of 73.
Full-scale IQ (FSIQ) score of 34.
151364542
151430841
66300
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13355.p1
N/A
M
ASD
ASD proband from SSC quad family 13355. SRS score of 90.
Full-scale IQ (FSIQ) score of 30.
150983105
150994699
11595
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11242.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
152600731
152614098
13368
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11468.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
154321155
154334591
13437
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
152600731
152614098
13368
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11550.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
152600731
152614098
13368
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11981.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
153667554
153693197
25644
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13534.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
152511534
152843763
332230
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13671.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
154275615
154334591
58977
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case34
16 yrs.
F
Intellectual disability
Low bone density
Intellectual disability
151359437
151437497
78061
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case35
15 yrs.
M
Intellectual disability
Low bone density
Intellectual disability
151359437
151437497
78061
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
152583230
152613802
30573
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
152583230
152614118
30889
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown98
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)
154330008
154466450
136443
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case125603
N/A
F
DCD
Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
151360242
151435958
75717
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255116
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
152991994
153769999
778006
GRCh38
Duplication
N/A
pfundt_16_NDD_discovery_cases-case137
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: de novo GATAD2B deletion
153693105
153930443
237339
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3312A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1342302; NDAR ID NDAR_INVVY673ZJL)
150487449
150491664
4216
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3571A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1272302; NDAR ID NDAR_INVPG937HCT)
153040126
153205006
164881
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 3 mos).
Developmental delay: yes. Intellectual disability: N/A.
153237112
153293051
55940
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
153094217
153094265
49
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
153224964
153225981
1018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
153522768
153538628
15861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
154306323
154336165
29843
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
153224964
153228511
3548
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
152264996
152292634
27639
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
153516247
153533298
17052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
153668351
153705621
37271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
153516247
153533298
17052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12046.p1
12.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
153516247
153533298
17052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
153516247
153533298
17052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12317.p1
6.8
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
153516247
153533298
17052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
153095836
153107045
11210
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
153702228
153717537
15310
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
152583773
152612539
28767
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
152583773
152612539
28767
GRCh38
Deletion
No
schuch_19_ASD_discovery_cases-case1
N/A
M
ASD and epilepsy
Autism disorder, epilepsy, mood instability, repetitive movements.
152566461
152622720
56260
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
150823073
150852858
29785
Unknown
Duplication
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
150823073
150852858
29785
Unknown
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_4
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
152107590
152156949
49360
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
152583051
152614118
31068
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
152583773
152612539
28767
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0099-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
151364210
151437013
72804
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-control110036014017_
N/A
N/A
Control
No previous psychiatric history
152554167
152588932
34766
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB682015_1007872283
N/A
N/A
Control
No previous psychiatric history
152554167
152618089
63923
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
N/A
N/A
Control
No previous psychiatric history
153641069
153750561
109493
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB831843_1007873972
N/A
N/A
Control
No previous psychiatric history
153237112
153281264
44153
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
N/A
N/A
Control
No previous psychiatric history
152300692
152767155
466464
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
N/A
N/A
Control
No previous psychiatric history
152554167
152588932
34766
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
N/A
N/A
Control
No previous psychiatric history
153639577
153750561
110985
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
N/A
N/A
Control
No previous psychiatric history
152282749
152670684
387936
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
N/A
N/A
Control
No previous psychiatric history
152554167
152617711
63545
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
N/A
N/A
Control
No previous psychiatric history
152554167
152617711
63545
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13355.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13355. SRS score of 39.
150983337
150994699
11363
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
151166152
151174547
8396
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11150.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
151364542
151430841
66300
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12512.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
152565929
152623103
57175
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13518.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150747776
151224406
476631
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C26744
Control
152542068
152575278
33211
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C42746A
N/A
F
Control
NIMH Control (NIMH ID 28364)
154321154
154334593
13440
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
153032344
153205006
172663
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
153097108
153115185
18078
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
153224964
153225981
1018
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
152235898
152258950
23053
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12296.s1
13.9
M
Control (matched sibling)
NA
NA
153705621
153713585
7965
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
153224964
153225981
1018
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12602.s1
6.8
F
Control (matched sibling)
NA
NA
153702228
153717537
15310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
153224964
153228511
3548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
153522768
153533298
10531
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
153224964
153225981
1018
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11075
Unknown
Simplex
NA
GATAD2B
celestino-soper_11_ASD_discovery_cases-11411
Unknown
Simplex
NA
GATAD2B
celestino-soper_11_ASD_discovery_cases-11417
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
LCE3C
celestino-soper_11_ASD_discovery_cases-11458
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
LCE3C,LCE3B
celestino-soper_11_ASD_discovery_cases-11466
Unknown
Simplex
NA
SPRR3
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
LCE3C
engchuan_15_ASD_discovery_cases-case20178_1701001
Unknown
LCE2D,LCE2C,LCE2B
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
HMGN3P1,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,FLG2,FLG-AS1,FLG
guo_18_ASD/DD/ID_discovery_cases-caseBK-455-04
aCGH, Sanger sequencing
Maternal
Multiplex
Not segregated
PSMB4,SELENBP1,POGZ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001949
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CRTC2,MIR6737,CREB3L4,DENND4B,SLC39A1,JTB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002655
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SLC27A3,CRTC2,MIR6737,CREB3L4,RAB13,RPS27,RNU6-179P,RPS7P2,MIR5698,RN7SL431P,MIR190B,C1orf43,DENND4B,SLC39A1,JTB,TPM3,C1orf189,INTS3,GATAD2B,NUP210L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004135
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL372P,GEMIN2P1,SLC27A3,CRTC2,MIR6737,CREB3L4,DENND4B,SLC39A1,JTB,INTS3,GATAD2B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004141
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHTOP,SNAPIN,MIR8083,RN7SL372P,GEMIN2P1,ILF2,NPR1,INTS3
krumm_13_ASD_discovery_cases-case12691.p1
Maternal
Simplex
Segregated
PSMB4,SELENBP1,POGZ
krumm_13_ASD_discovery_cases-case13355.p1
Paternal
Simplex
Not segregated
ANXA9
krumm_15_ASD_discovery_cases-case11242.p1
Illumina 1M
Maternal
Simplex
Segregated
LCE3C,LCE3B
krumm_15_ASD_discovery_cases-case11468.p1
Illumina 1M
Paternal
Simplex
Segregated
AQP10,ATP8B2
krumm_15_ASD_discovery_cases-case11512.p1
Illumina 1M
Maternal
Simplex
Segregated
LCE3C,LCE3B
krumm_15_ASD_discovery_cases-case11550.p1
Illumina 1M
De novo
Simplex
Segregated
LCE3C,LCE3B
krumm_15_ASD_discovery_cases-case11981.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR8083,ILF2,NPR1
krumm_15_ASD_discovery_cases-case13534.p1
1M-Duov3
De novo
Simplex
Segregated
LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCEP4,LCE2D,LCE2C,LCE2B,LCE4A,C1orf68,LCEP2,LCEP1,KPRP,LCE1F,LCE1E,LCE1C,LCE1B,LCE1A,LCE6A,LCE1D,LCE2A
krumm_15_ASD_discovery_cases-case13671.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
HAX1,RNU6-239P,RNU6-121P,AQP10,ATP8B2
lee_17_ASD/DD/ID/MCA_discovery_cases-case34
Unknown
PSMB4,SELENBP1,POGZ
lee_17_ASD/DD/ID/MCA_discovery_cases-case35
Unknown
PSMB4,SELENBP1,POGZ
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
LCE3C
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
LCE3C,LCE3B
maini_18_ASD/DD/ID_discovery_cases-case_unknown98
Paternal
Unknown
Unknown
RNU7-57P,RPSAP17,PSMD8P1,ATP8B2,IL6R,IL6R-AS1
mosca_16_DCD_discovery_cases-case125603
Unknown
Multi-generational
Unknown
PSMB4,SELENBP1,POGZ
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255116
Unknown
Unknown
Unknown
SPRR3,SPRR1B,SPRR2D,SPRR2A,SPRR2B,SPRR2E,SPRR2F,SPRR2C,SPRR2G,LELP1,PRR9,LOR,RNU6-160P,S100A9,S100A12,LAPTM4BP1,S100A8,S100A15A,S100A7P1,S100A7L2,S100A7,RN7SL44P,S100A6,S100A5,S100A4,S100A3,S100A16,S100A13,S100A1,CHTOP,SNAPIN,MIR8083,RN7SL372P,GEMIN2P1,PGLYRP3,PGLYRP4,S100A7A,S100A2,ILF2,NPR1,S100A14,INTS3
pfundt_16_NDD_discovery_cases-case137
Array SNP (Affymetrix CytoScan HD)
De novo
RN7SL372P,GEMIN2P1,SLC27A3,NPR1,DENND4B,INTS3,GATAD2B
poultney_13_ASD_discovery_cases-case04HI3312A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TARS2
poultney_13_ASD_discovery_cases-case05HI3571A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPRR2D,SPRR2A,SPRR2B,SPRR2E,SPRR2F,SPRR2C,SPRR2G,LELP1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
qPCR
Maternal
Unknown
Unknown
LOR
sanders_11_ASD_discovery_cases-11043.p1
Unknown
Simplex (quad-proband matched)
Segregated
SPRR2E
sanders_11_ASD_discovery_cases-11134.p1
Maternal
Simplex (trio)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-11265.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11371.p1
Maternal
Simplex (trio)
NA
S100A6,S100A5
sanders_11_ASD_discovery_cases-11468.p1
Paternal
Simplex (trio)
NA
AQP10,ATP8B2
sanders_11_ASD_discovery_cases-11617.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Segregated
FLG-AS1
sanders_11_ASD_discovery_cases-11824.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11909.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR8083,RN7SL372P,ILF2,NPR1
sanders_11_ASD_discovery_cases-12037.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12037.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12046.p1
Paternal
Simplex (trio)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12192.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12317.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12332.p1
Paternal
Simplex (trio)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12429.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12505.p1
Maternal
Simplex (trio)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPRR2E
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL372P,GEMIN2P1
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
LCE3C
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
LCE3C
schuch_19_ASD_discovery_cases-case1
Unknown
Unknown
Unknown
LCE3E,LCE3D,LCE3C,LCE3B
shen_10b_ASD_discovery_cases-caseII:5
Both parents
Simplex
Unknown
LCE3C
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Segregated
LCE3C
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_4
Unknown
Multiplex
Segregated (CNV not present in unaffected twin)
TCHH,RPTN,PUDPP2
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
LCE3C,LCE3B
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
LCE3C
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0099-003
RT-qPCR or WGS
Unknown
PSMB4,SELENBP1,POGZ
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014017_
Unknown
LCE3E,LCE3D
engchuan_15_ASD_discovery_controls-controlB682015_1007872283
Unknown
LCE3E,LCE3D,LCE3C,LCE3B
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
Unknown
CHTOP,SNAPIN,MIR8083,RN7SL372P,GEMIN2P1,ILF2,NPR1,INTS3
engchuan_15_ASD_discovery_controls-controlB831843_1007873972
Unknown
LOR
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
Unknown
HMGN3P1,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCEP4,LCE2D,LCE2C,LCE2B,LCE4A,C1orf68,LCEP2,LCEP1,KPRP,FLG2,FLG-AS1,FLG,LCE2A
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
Unknown
LCE3E,LCE3D
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
Unknown
CHTOP,SNAPIN,MIR8083,RN7SL372P,GEMIN2P1,ILF2,NPR1,INTS3
engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
Unknown
HMGN3P1,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCEP4,LCE2D,FLG2,FLG-AS1,FLG
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
Unknown
LCE3E,LCE3D,LCE3C,LCE3B
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
Unknown
LCE3E,LCE3D,LCE3C,LCE3B
krumm_13_ASD_discovery_controls-control13355.s1
Paternal
Simplex
ANXA9
krumm_15_ASD_discovery_controls-control11037.s1
Illumina 1M
Paternal
SCNM1,TMOD4,VPS72
krumm_15_ASD_discovery_controls-control11150.s1
Illumina 1M
Paternal
PSMB4,SELENBP1,POGZ
krumm_15_ASD_discovery_controls-control12512.s1
Illumina 1MDuo
De novo
LCE3E,LCE3D,LCE3C,LCE3B,LCE3A
krumm_15_ASD_discovery_controls-control13518.s1
1M-Duov3
Paternal
UBE2D3P3,RNU6-1309P,RPS27AP6,CYCSP51,MINDY1,RNU6-884P,C1orf56,RPS29P29,LYSMD1,CTSK,CTXND2,SETDB1,CERS2,PRUNE1,BNIPL,CDC42SE1,MLLT11,GABPB2,SEMA6C,TNFAIP8L2,SCNM1,TMOD4,VPS72,PIP5K1A,CTSS,ARNT,ANXA9
nord_11_ASD_discovery_controls-04C26744
AQP10,ATP8B2
poultney_13_ASD_discovery_controls-control05C42746A
Unknown
AQP10,ATP8B2
poultney_13_ASD_discovery_controls-control05C43347
Unknown
SPRR1B,SPRR2D,SPRR2A,SPRR2B,SPRR2E,SPRR2F,SPRR2C,SPRR2G,LELP1
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
SPRR2E,SPRR2F
sanders_11_ASD_discovery_controls-11793.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11998.s1
Maternal
Simplex (quad)
NA
FLG-AS1
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_controls-12211.s1
Both parents
Simplex (quad)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_controls-12296.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12561.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12602.s1
Paternal
Simplex (quad)
NA
RN7SL372P,GEMIN2P1
sanders_11_ASD_discovery_controls-12735.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13015.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13053.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available