13q21.1CNV Type: Deletion-Duplication
Largest CNV size: 537144 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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
25162
1
1
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
409288
8
3
11
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
74422
1
0
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
334000
1
0
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
370802
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
2879199
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
2567573
2
3
5
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
59152
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
900000
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
304000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
59631
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
373277
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
65400
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
107632
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
191851
4
0
4
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
351870
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
537144
25
2
27
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
5623
1
0
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
331739
11
5
16
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
58110
2
0
2
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
900000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
59631
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
333984
1
0
1
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)
191851
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.
98479
19
0
19
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K, Agilent 8x60K)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11152
NA
M
ASD
NA
NA
57148302
57173464
25163
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11178
NA
M
ASD
NA
NA
57148302
57173462
25161
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14325_4390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57134615
57208166
73552
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3032_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55173127
55219652
46526
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3264_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52832393
53241681
409289
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3479_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55584349
55695264
110916
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4150_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55771225
55839025
67801
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4228_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54743050
54949643
206594
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4251_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5142_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57036675
57090955
54281
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57148154
57208166
60013
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6381_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54569619
54899597
329979
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1493301
Autism
55077481
55151902
74422
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patient42
ASD
Marked dysmorphism (External eyebrow flare, thin upper lip, long philtrum, bilateral epicanthal folds, and short nose)
IQ<70
NA
NA
334000
Unknown
Deletion
No
girirajan_13b_ASD_discovery_cases-20909111311
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
54529681
54900483
370803
GRCh38
Deletion
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-413-03
N/A
M
ASD
54973401
57852600
2879200
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003883
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
55241062
55781320
540259
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003960
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56274984
57219279
944296
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54493354
57060928
2567575
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005015
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54988722
55781320
792599
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005309
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54988722
55781320
792599
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1925
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
57813567
57827157
13591
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case3067
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
58709911
58769062
59152
Unknown
Duplication
No
leppa_16_ASD_discovery_cases-AU1223301
N/A
M
ASD
57722866
58596866
874001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDZ98
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: FS, absences. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 86, performance IQ 121 (at 8 years of age).
54579853
54883637
303785
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12370.p1
NA
M
ASD
NA
NA
57154939
57214569
59631
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0154-003
NA
F
ASD
NA
NA
55179817
55553093
373277
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case10601
NA
ASD
NA
NA
54838000
54904000
65400
Unknown
Deletion
No
nord_11_ASD_discovery_cases-307-1
ASD
54766483
54874114
107632
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case130293
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
55056904
55156862
99959
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45758
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
56513501
56548183
34683
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51165L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52269468
52272711
3244
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
56657171
56849021
191851
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-313
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
56979212
57331081
351870
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
52783788
52788560
4773
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
54214707
54242191
27485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
58019523
58026770
7248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11489.p1
10.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11508.p1
8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
57574986
57621735
46750
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
54569619
54916460
346842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
58019523
58026770
7248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
56394017
56444247
50231
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
56519646
57056790
537145
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
54617090
54637046
19957
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
57294407
57314852
20446
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
57187336
57192959
5624
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036015352_
N/A
N/A
Control
No previous psychiatric history
57187336
57318758
131423
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
N/A
N/A
Control
No previous psychiatric history
57148154
57208166
60013
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB304483_1007854080
N/A
N/A
Control
No previous psychiatric history
57148154
57208166
60013
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB502539_1007872577
N/A
N/A
Control
No previous psychiatric history
57148154
57208166
60013
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
N/A
N/A
Control
No previous psychiatric history
57134615
57208166
73552
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
N/A
N/A
Control
No previous psychiatric history
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB692316_1007876014
N/A
N/A
Control
No previous psychiatric history
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB812969_1007874819
N/A
N/A
Control
No previous psychiatric history
57166649
57457092
290444
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
N/A
N/A
Control
No previous psychiatric history
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
N/A
N/A
Control
No previous psychiatric history
55484796
55620043
135248
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
N/A
N/A
Control
No previous psychiatric history
55827342
55902659
75318
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900459_900459
N/A
N/A
Control
No previous psychiatric history
57589049
57621735
32687
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
N/A
N/A
Control
No previous psychiatric history
54569619
54899597
329979
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
N/A
N/A
Control
No previous psychiatric history
57574986
57621735
46750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
N/A
N/A
Control
No previous psychiatric history
54567858
54899597
331740
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902687_902687
N/A
N/A
Control
No previous psychiatric history
54569619
54899597
329979
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1247
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
58797394
58855503
58110
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1402
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
58797394
58855503
58110
Unknown
Deletion
No
leppa_16_ASD_discovery_controls-AU1223302
N/A
F
Control
Unaffected sibling
57722866
58596866
874001
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12370.s1
NA
F
Control
NA
NA
57154939
57214569
59631
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C28234
Control
54041098
54375081
333984
Unknown
Deletion
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
55690834
55789313
98480
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
54617090
54637046
19957
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
55445608
55525875
80268
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
56461089
56468659
7571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
54230642
54242191
11550
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12224.s1
6
M
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
56927279
56936743
9465
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12617.s1
14.6
M
Control (matched sibling)
NA
NA
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12749.s1
4.3
F
Control (matched sibling)
NA
NA
58019523
58024897
5375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
57294407
57314852
20446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
57282801
57314852
32052
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-11152
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
PRR20B,PRR20D,PRR20E,PRR20FP,PRR20C
celestino-soper_11_ASD_discovery_cases-11178
Unknown
Simplex
NA
PRR20B,PRR20D,PRR20E,PRR20FP,PRR20C
engchuan_15_ASD_discovery_cases-case14325_4390
Unknown
PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_cases-case3032_3
Unknown
MIR5007
engchuan_15_ASD_discovery_cases-case3264_3
Unknown
PCDH8,PCDH8P1,OLFM4,LINC01065
engchuan_15_ASD_discovery_cases-case3479_3
Unknown
engchuan_15_ASD_discovery_cases-case4150_1
Unknown
engchuan_15_ASD_discovery_cases-case4228_1
Unknown
engchuan_15_ASD_discovery_cases-case4251_1
Unknown
engchuan_15_ASD_discovery_cases-case5142_4
Unknown
engchuan_15_ASD_discovery_cases-case6347_3
Unknown
PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_cases-case6381_3
Unknown
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
gai_11_ASD_discovery_cases-AU1493301
Inherited
0 genes
gannon_11_ASD/DD_discovery_cases-patient42
Unknown
Unknown
NA
girirajan_13b_ASD_discovery_cases-20909111311
Unknown
Unknown
Unknown
guo_18_ASD/DD/ID_discovery_cases-caseBK-413-03
aCGH, Sanger sequencing
Maternal
Multiplex
Not segregated
MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,LINC02335,PRR20C,PCDH17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003883
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003960
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,LINC02335
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005015
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR5007,LINC02335
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005309
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR5007,LINC02335
kanduri_15_ASD_discovery_cases-case1925
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, PRR20B(dist=69215),PCDH17(dist=378632)
kanduri_15_ASD_discovery_cases-case3067
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, PCDH17(dist=406846),DIAPH3(dist=1470659)
leppa_16_ASD_discovery_cases-AU1223301
Paternal
Multiplex
Not segregated (CNV not present in affected siblings but is present in unaffected sibling AU1223302))
RNA5SP30,RNY4P29,CTAGE16P,LINC00374,LINC02338,PCDH17
lesca_12_EP_discovery_cases-caseDZ98
Unknown
Unknown
Unknown
levy_11_ASD_discovery_cases-12370.p1
Maternal
Simplex
Not segregated
PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
marshall_08_ASD_discovery_cases-MM0154-003
qPCR, qmPCR
Unknown
NA
NA
morrow_08_ASD_discovery_cases-case10601
Maternal
NA
NA
0 genes
nord_11_ASD_discovery_cases-307-1
Maternal
0 genes
prasad_12_ASD_discovery_cases-case130293
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case45758
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case51165L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-313
qPCR
Unknown
Unknown
Unknown
PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,PRR20C
sanders_11_ASD_discovery_cases-11009.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11017.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A5P4
sanders_11_ASD_discovery_cases-11124.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11432.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11450.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11489.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11508.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11510.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12139.p1
Maternal
Simplex (trio)
NA
SLC25A5P4
sanders_11_ASD_discovery_cases-12185.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SLC25A5P4
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12301.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12617.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A5P4
sanders_11_ASD_discovery_cases-12956.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A5P4
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
SLC25A5P4
sanders_11_ASD_discovery_cases-13070.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SKP6
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13174.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A5P4
tabet_12_ASD_discovery_cases-patient1
Paternal
Multiplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015352_
Unknown
MTCO2P3,SLC25A5P4
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
Unknown
PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_controls-controlB304483_1007854080
Unknown
PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_controls-controlB502539_1007872577
Unknown
PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
Unknown
PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
Unknown
engchuan_15_ASD_discovery_controls-controlB692316_1007876014
Unknown
engchuan_15_ASD_discovery_controls-controlB812969_1007874819
Unknown
PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
Unknown
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900459_900459
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902687_902687
Unknown
kanduri_15_ASD_discovery_controls-control_split1247
Unknown
Intergenic CNV: nearest genes, PCDH17(dist=494329),DIAPH3(dist=1384218)
kanduri_15_ASD_discovery_controls-control_split1402
Unknown
Intergenic CNV: nearest genes, PCDH17(dist=494329),DIAPH3(dist=1384218)
leppa_16_ASD_discovery_controls-AU1223302
Paternal
Multiplex
RNA5SP30,RNY4P29,CTAGE16P,LINC00374,LINC02338,PCDH17
levy_11_ASD_discovery_controls-12370.s1
Maternal
Simplex
NA
PRR20D,PRR20E,PRR20FP,MTCO2P3,PRR20C
nord_11_ASD_discovery_controls-04C28234
0 genes
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
SLC25A5P4
sanders_11_ASD_discovery_controls-11094.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11178.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11201.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11422.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12036.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
SLC25A5P4
sanders_11_ASD_discovery_controls-12219.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12224.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12383.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12617.s1
Paternal
Simplex (quad)
NA
SLC25A5P4
sanders_11_ASD_discovery_controls-12749.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12956.s1
Paternal
Simplex (quad)
NA
SLC25A5P4
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
SLC25A5P4
No Animal Model Data Available