1q32.1CNV Type: Deletion-Duplication
Largest CNV size: 121146 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
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...
Duplication
Micro-duplications of 1q32.1 associated with neurodevelopmental delay.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
2417
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
142
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
110698
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
35000
0
1
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
1011000
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
145519
3
2
5
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
345000
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
787779
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
20104
16
0
16
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
23208
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
52164
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
390000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
12237
2
0
2
olson_12_ASD/DD_discovery_cases
Probands with neurodevelopmental delay examined by diagnostic chromosomal microarray (CMA) testing performed at the Genetic Diagnostic Laboratory, Children's Hospital Boston (CHB)
>8000
ASD/developmental delay (DD)
NA
NA
3500000
0
2
2
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)
3924
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
145677
1
4
5
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
121146
22
5
27
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
16586
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
11467
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
166
1
0
1
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
188305
4
0
4
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
51658
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
562977
13
0
13
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.
0
0
0
0
olson_12_ASD/DD_discovery_controls
Probands with no reported developmental delay or neurologic phenotype evaluated by diagnostic CMA testing performed at the Genetic Diagnostic Laboratory, Children's Hospital Boston (CHB)
2000
Control (no developmental delay or neurologic phenotype)
NA
NA
3500000
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
447213
3
0
3
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
145677
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
115268
18
0
18
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
16586
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
11467
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
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
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
olson_12_ASD/DD_discovery_cases
NA
aCGH
Agilent 244K
FISH
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
olson_12_ASD/DD_discovery_controls
NA
aCGH
Agilent 244K
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-caseAU024606
N/A
F
ASD
Case from MSSNG cohort
201654854
201657270
2417
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11208
NA
F
ASD
NA
NA
200605804
200605946
143
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP82
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: developmental regression, intellectual disability, food allergy and selectivity, sinusitis, recurrent vomiting.
Intellectual disability
202777264
202887961
110698
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300368
N/A
M
Developmental delay
Global developmental delay
202124547
202159705
35159
GRCh38
Duplication
Yes
egger_14_ASD_discovery_cases-caseA194
26 yrs. (born 1988)
M
ASD
Diagnosis: early infantile autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive impairment (IQ 60-80)
202816870
203828599
1011730
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case20021_1107001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
204489329
204549903
60574
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case20050_1272001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
204483957
204549903
65946
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case20089_1391001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
206541489
206580443
38955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5253_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
200818949
200964468
145520
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6325_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
200740668
200818949
78282
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14365.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
206017991
206268643
250653
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001669
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
201226425
202014204
787780
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11895.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12044.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
202333009
202335754
2746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12130.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12467.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12619.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12652.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13045.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13309.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023058
12919
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13620.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13641.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14147.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
202729035
202749139
20105
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14219.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14244.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
206010140
206023792
13653
GRCh38
Deletion
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
200772978
200796185
23208
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case13
22 months
M
Hydrocephalus
Hydrocephalus
204150207
204202370
52164
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown99
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)
199512903
199899127
386225
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-216-1
ASD
202175391
202187627
12237
Unknown
Deletion
No
nord_11_ASD_discovery_cases-256-1
ASD
202175391
202187627
12237
Unknown
Deletion
No
olson_12_ASD/DD_discovery_cases-case1
5 yrs.
M
PDD-NOS
Diagnosis of PDD-NOS based on ADOS and neuropsychological evaluation at age of 4.5 years. Additional diagnosis of Anxiety Disorder, Not Otherwise Specified. Birth/neonatal history: born at full term with no prenatal or perinatal complications. Developmental milestones: global developmental delay without regression; development of two word phrases at 3 years; walking at 2 years. Verbal and nonverbal skills in low average range/slower learning range (Differential Ability Scale, 2nd Edition). Behavioral/neurological characteristics: irritability, aggression, difficulty with social skills, sensory seeking behaviors and repetitive & compulsive behaviors; staring spells without other features to suggest seizures, migraine headaches, paresthesias of the hands (now resolved). EEG: normal. Spinal MRI: normal. Brain MRI: small non-specific subcortical white matter T2 hyperintensities in frontal and parietal lobes bilaterally and a larger focus in right occipital lobe, whch were not enhancing. Dysmorphic features: mildly everted ears. Growth parameters: height, 106 cm (61st %ile); weight, 22.5 kg (98th %ile, +2 SD); head circumference, 51 cm (59th %ile). Family history: non-consanguineous parents; father with learning difficulties including dyslexia; mother with learning disabilities and epilepsy; one brother and one maternal half-sister are healthy & developmentally normal; another maternal half-sister with ADHD; paternal aunt with intellectual disability.
Intellectual disability/global developmental delay. Kaufman Survey of Early Academic and Language Skills (KSEALS): low average knoweldge.
200512078
203520928
3008851
GRCh38
Duplication
Yes
olson_12_ASD/DD_discovery_cases-case2
14 yrs.
F
Developmental delay
Birth/neonatal history: born at 34 wk by vaginal delivery; normal weight & length; no perinatal complications. Developmental milestones: early developmental delay, primarily with regards to motor skills; walking at 26 months. Motor skills: decreased body awareness & coordination; difficulty with motor planning of new skills; difficulty with fine motor tasks & dexterity. Language skills: significant difficulty with receptive and expressive language. Epilepsy/seizures: myoclonic epilepsy; initial seizure semiology consisted of upward eye deviation, limpness and unresponsiveness occurring inly in the setting of fever from 18 months to 3 years; development of bilateral upper extremity myoclonic seizures, occurring up to 40x/day, at 4-5 years; seizures persist depsite multiple anti-epileptic medications. EEG (at 10 yrs.): generalized spike and slow wave discharges; myoclonic seizures associated with spike and wave discharges. Brain MRI (at 6 years): normal. Dysmorphic features: outer canthal distance >97th %ile, small teeth, single palmar crease in right hand. Growth parameters (at 10 yrs. 9 mos.): height, 138.1 cm (27th %ile); weight, 51.8 kg (93rd %ile); head circumference, 52 cm (34th %ile). Family history: non-consanguineous parents; paternal half-brother with febrile seizures and learning disabilities.
Intellectual disability. WISC-IV full-scale IQ of 50 (<0.1 %ile). Comprehensive Test of Nonverbal Intelligence: non-verbal IQ in very poor range. Reading at 3rd grade level at age of 12.
200575574
204081295
3505722
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4105A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1559303; NDAR ID NDAR_INVKK674DU9)
202331833
202335756
3924
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
199676462
199709168
32707
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68687
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
199054039
199199715
145677
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85907
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
199054039
199199715
145677
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case87396
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
203704655
203723543
18889
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL656
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
202731116
202768127
37012
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
206018106
206020389
2284
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11091.p1
8.1
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 111; verbal IQ, 136
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
204192362
204198544
6183
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
202369127
202431779
62653
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11541.p1
10.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
203466590
203509242
42653
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
202818915
202829373
10459
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
207022223
207033452
11230
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11895.p1
7.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
202470160
202558893
88734
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12053.p1
4.1
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
201406530
201527676
121147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12354.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
203163179
203175705
12527
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
202811402
202826703
15302
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
203166273
203175705
9433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
203938007
203949142
11136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
204002893
204014936
12044
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case2-1075-003
N/A
M
ASD
N/A
N/A
204123897
204140482
16586
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case46
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
203685267
203696733
11467
GRCh38
Duplication
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
brandler_18_ASD_replication_controls-controlSSC00700
N/A
F
control
Control from SSC_phase2 cohort
201878280
201878445
166
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036020626_
N/A
N/A
Control
No previous psychiatric history
200525288
200713593
188306
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
N/A
N/A
Control
No previous psychiatric history
202552806
202599607
46802
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
N/A
N/A
Control
No previous psychiatric history
204482556
204563686
81130
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
N/A
N/A
Control
No previous psychiatric history
204483957
204549903
65946
NCBI36
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1532
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
198785494
198837151
51658
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11029.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023058
12919
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11519.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11521.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12100.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12467.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13163.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
200854816
201417793
562978
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13424.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13620.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13623.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13645.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14147.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
202729035
202746323
17289
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14219.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14244.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
206010140
206023792
13653
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C34751A
N/A
F
Control
NIMH Control (NIMH ID 34330)
206010138
206268643
258506
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C34751A
N/A
F
Control
NIMH Control (NIMH ID 34330)
205268948
205599253
330306
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40144A
N/A
F
Control
NIMH Control (NIMH ID 33099)
206010138
206101954
91817
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
207022992
207032898
9907
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
199938138
199957056
18919
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
203941092
203949142
8051
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
204412046
204431655
19610
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12053.s1
7.1
F
Control (matched sibling)
NA
NA
201406530
201521798
115269
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12100.s1
13.8
F
Control (matched sibling)
NA
NA
206011717
206024034
12318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
203935438
203949142
13705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
201005513
201005936
424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
199712283
199729605
17323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
199572642
199576507
3866
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
202818915
202829373
10459
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
203938007
203949142
11136
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU024606
No validation step reported
Paternal
NAV1
celestino-soper_11_ASD_discovery_cases-11208
Unknown
Simplex
NA
KIF14
costa_21_ASD_discovery_cases-caseP82
Unknown
ACTG1P25,MGAT4EP,TUBA5P,SLC25A39P1,PCAT6,RABIF,KDM5B
digregorio_17_DD/ID_discovery_cases-DECIPHER_300368
qPCR
Maternal
ARL8A,PTPN7,GPR37L1
egger_14_ASD_discovery_cases-caseA194
qPCR
Paternal
Unknown
MGAT4EP,HNRNPA1P59,MYOG,MYBPH,CHI3L1,NPM1P40,LINC01353,LINC01136,RNU6-487P,LARP7P1,SNORA77,RABIF,ADIPOR1,CYB5R1,TMEM183A,CHIT1,BTG2,FMOD,PRELP,OPTC,LAX1,KLHL12,PPFIA4,ADORA1,ATP2B4,ZC3H11A,ZBED6
engchuan_15_ASD_discovery_cases-case20021_1107001
Unknown
CTSE
engchuan_15_ASD_discovery_cases-case20050_1272001
Unknown
CTSE
engchuan_15_ASD_discovery_cases-case20089_1391001
Unknown
EIF2D,RASSF5
engchuan_15_ASD_discovery_cases-case5253_3
Unknown
RPL34P6,GPR25,INAVA,CAMSAP2,MROH3P,RNU6-704P
engchuan_15_ASD_discovery_cases-case6325_3
Unknown
CAMSAP2
girirajan_13a_ASD_discovery_cases-14365.p1
Unknown
Simplex
Unknown
RPL22P4,CTSE,RHEX,AVPR1B,FAM72A,SRGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001669
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PHLDA3,MIR5191,RNU6-501P,MIR1231,MIR6739,SHISA4,RPL10P4,MIR6740,TNNT2,LAD1,TNNI1,CSRP1,RPS10P7,LMOD1,TIMM17A,RNPEP,ELF3-AS1,ELF3,IGFN1,NAV1,IPO9-AS1,IPO9,PKP1
krumm_15_ASD_discovery_cases-case11012.p1
Illumina 1M
Maternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case11895.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case12044.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UBE2T
krumm_15_ASD_discovery_cases-case12130.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case12467.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CTSE
krumm_15_ASD_discovery_cases-case12619.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case12652.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case13045.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case13309.p1
1M-Duov3
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case13407.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case13620.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CTSE
krumm_15_ASD_discovery_cases-case13641.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case14033.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CTSE
krumm_15_ASD_discovery_cases-case14147.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
KDM5B
krumm_15_ASD_discovery_cases-case14219.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CTSE
krumm_15_ASD_discovery_cases-case14244.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CTSE
leblond_12_ASD_discovery_cases-AUGB038_3
Paternal
Simplex
CAMSAP2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case13
Unknown
ETNK2,REN,KISS1,GOLT1A
maini_18_ASD/DD/ID_discovery_cases-case_unknown99
Paternal
Unknown
Unknown
RNU6-778P
nord_11_ASD_discovery_cases-216-1
Paternal
0 genes
nord_11_ASD_discovery_cases-256-1
Paternal
0 genes
olson_12_ASD/DD_discovery_cases-case1
FISH
De novo
Simplex for ASD; multiplex for neuropsychiatric disorder (maternal half-sister with ADHD)
Possibly segregated
RPL34P6,GPR25,ASCL5,PHLDA3,MIR5191,RNU6-501P,MIR1231,MIR6739,SHISA4,RPL10P4,MIR6740,CRIP1P3,ARL8A,PTPN7,UBE2T,CYCSP4,RNU6-89P,SLC25A39P1,PCAT6,MGAT4EP,HNRNPA1P59,MYOG,MYBPH,CHI3L1,NPM1P40,LINC01353,LINC01136,RNU6-487P,LARP7P1,KIF14,DDX59,INAVA,KIF21B,TMEM9,TNNT2,LAD1,TNNI1,CSRP1,RPS10P7,LMOD1,TIMM17A,RNPEP,ELF3-AS1,ELF3,GPR37L1,PTPRVP,RABIF,ADIPOR1,CYB5R1,TMEM183A,CHIT1,BTG2,FMOD,PRELP,OPTC,CAMSAP2,MROH3P,RNU6-704P,CACNA1S,IGFN1,NAV1,IPO9-AS1,IPO9,LGR6,SYT2,KDM5B,KLHL12,PPFIA4,ADORA1,PPP1R12B,PKP1
olson_12_ASD/DD_discovery_cases-case2
Unknown (not maternal)
Multiplex (paternal half-brother with epilepsy & learning disabilities)
Unknown
RPL34P6,GPR25,ASCL5,PHLDA3,MIR5191,RNU6-501P,MIR1231,MIR6739,SHISA4,RPL10P4,MIR6740,CRIP1P3,ARL8A,PTPN7,UBE2T,CYCSP4,RNU6-89P,SLC25A39P1,PCAT6,MGAT4EP,HNRNPA1P59,MYOG,MYBPH,CHI3L1,NPM1P40,LINC01353,LINC01136,RNU6-487P,LARP7P1,SNORA77,KRT8P29,HSPE1P6,CBX1P3,LINC00303,KIF14,DDX59,INAVA,KIF21B,TMEM9,TNNT2,LAD1,TNNI1,CSRP1,RPS10P7,LMOD1,TIMM17A,RNPEP,ELF3-AS1,ELF3,GPR37L1,PTPRVP,RABIF,ADIPOR1,CYB5R1,TMEM183A,CHIT1,BTG2,FMOD,PRELP,OPTC,LAX1,SNRPE,CAMSAP2,MROH3P,RNU6-704P,CACNA1S,IGFN1,NAV1,IPO9-AS1,IPO9,LGR6,SYT2,KDM5B,KLHL12,PPFIA4,ADORA1,ATP2B4,ZC3H11A,ZBED6,SOX13,PPP1R12B,PKP1
poultney_13_ASD_discovery_cases-case05HI4105A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UBE2T
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
PHLDA3
prasad_12_ASD_discovery_cases-case68687
Unknown
Unknown
Unknown
CAMSAP1L1,C1orf106,GPR25
prasad_12_ASD_discovery_cases-case85907
Unknown
Unknown
Unknown
CAMSAP1L1,C1orf106,GPR25
prasad_12_ASD_discovery_cases-case87396
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseL656
Unknown
Unknown
Unknown
MDM4
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11048.p1
Unknown
Simplex (quad-proband matched)
Segregated
CTSE
sanders_11_ASD_discovery_cases-11091.p1
Maternal
Simplex (quad-proband matched)
Segregated
CTSE
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11471.p1
Unknown
Simplex (quad-proband matched)
Segregated
KISS1,GOLT1A
sanders_11_ASD_discovery_cases-11526.p1
Paternal
Simplex (quad-proband matched)
Segregated
CYCSP4,RNU6-89P,PPP1R12B
sanders_11_ASD_discovery_cases-11541.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRELP,OPTC
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MGAT4EP
sanders_11_ASD_discovery_cases-11794.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C1orf116
sanders_11_ASD_discovery_cases-11895.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTSE
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12026.p1
Unknown
Simplex (trio)
NA
PPP1R12B
sanders_11_ASD_discovery_cases-12053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PHLDA3,TNNI1,CSRP1,RPS10P7
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTSE
sanders_11_ASD_discovery_cases-12354.p1
Unknown
Simplex (trio)
NA
MYBPH,ADORA1
sanders_11_ASD_discovery_cases-12359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCAT6,MGAT4EP
sanders_11_ASD_discovery_cases-12481.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MYBPH,ADORA1
sanders_11_ASD_discovery_cases-12619.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTSE
sanders_11_ASD_discovery_cases-12652.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTSE
sanders_11_ASD_discovery_cases-12921.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13042.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13045.p1
Paternal
Simplex (trio)
NA
CTSE
sanders_11_ASD_discovery_cases-13095.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CTSE
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Segregated
walker_13_ASD_discovery_cases-case2-1075-003
Unknown
Simplex
Unknown
ETNK2,SOX13
yin_16_ASD_discovery_cases-case46
Unknown
Unknown
Unknown
ATP2B4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC00700
No validation step reported
Paternal
IPO9
engchuan_15_ASD_discovery_controls-control110036020626_
Unknown
KIF14,DDX59
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
Unknown
SYT2,PPP1R12B
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
Unknown
CTSE
engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
Unknown
CTSE
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
MIR181A1,MIR181B1 (non-coding RNA, exonic)
krumm_15_ASD_discovery_controls-control11029.s1
Illumina 1M
Paternal
CTSE
krumm_15_ASD_discovery_controls-control11519.s1
Illumina 1M
Paternal
CTSE
krumm_15_ASD_discovery_controls-control11521.s1
Illumina 1M
Paternal
CTSE
krumm_15_ASD_discovery_controls-control12100.s1
Illumina 1MDuo
Maternal
CTSE
krumm_15_ASD_discovery_controls-control12467.s1
1M-Duov3
Maternal
CTSE
krumm_15_ASD_discovery_controls-control13163.s1
1M-Duov3
Maternal
RPL34P6,GPR25,ASCL5,INAVA,KIF21B,TMEM9,TNNT2,LAD1,TNNI1,CAMSAP2,MROH3P,RNU6-704P,CACNA1S,IGFN1,PKP1
krumm_15_ASD_discovery_controls-control13424.s1
1M-Duov3
Paternal
CTSE
krumm_15_ASD_discovery_controls-control13620.s1
1M-Duov3
Maternal
CTSE
krumm_15_ASD_discovery_controls-control13623.s1
Omni2.5-4v1
Paternal
CTSE
krumm_15_ASD_discovery_controls-control13645.s1
1M-Duov3
Paternal
CTSE
krumm_15_ASD_discovery_controls-control14147.s1
Omni2.5-4v1
Paternal
KDM5B
krumm_15_ASD_discovery_controls-control14219.s1
Omni2.5-4v1
Paternal
CTSE
krumm_15_ASD_discovery_controls-control14244.s1
Omni2.5-4v1
Maternal
CTSE
poultney_13_ASD_discovery_controls-control04C34751A
Unknown
RPL22P4,CTSE,RHEX,AVPR1B,FAM72A,SRGAP2
poultney_13_ASD_discovery_controls-control04C34751A
Unknown
SNRPGP10,BLACAT1,MIR135B,RNU2-19P,RNU6-418P,NUAK2,KLHDC8A,LEMD1-AS1,MFSD4A,ELK4,TMCC2,LEMD1,CDK18
poultney_13_ASD_discovery_controls-control05C40144A
Unknown
CTSE,RHEX
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
CTSE
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11291.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11519.s1
Paternal
Simplex (quad)
NA
CTSE
sanders_11_ASD_discovery_controls-11590.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
C1orf116
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
CTSE
sanders_11_ASD_discovery_controls-11868.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Paternal
Simplex (quad)
NA
PIK3C2B
sanders_11_ASD_discovery_controls-12053.s1
Maternal
Simplex (quad)
NA
PHLDA3,TNNI1,CSRP1,RPS10P7
sanders_11_ASD_discovery_controls-12100.s1
Maternal
Simplex (quad)
NA
CTSE
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12154.s1
Both parents
Simplex (quad)
NA
KIF21B
sanders_11_ASD_discovery_controls-12187.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
MGAT4EP
sanders_11_ASD_discovery_controls-12921.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available