3p14.3CNV Type: Deletion-Duplication
Largest CNV size: 39766 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
210642
2
0
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
267330
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
411388
0
1
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
816
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
119035
1
0
1
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
1685701
1
1
2
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
32799
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
498638
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
775
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1059
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
76756
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
124371
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
16686
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
39766
4
1
5
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
650000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
210642
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
348427
2
3
5
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1059
0
1
1
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
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)
203321
0
1
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)
16686
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.
25841
6
1
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
aCGH (NimbleGen 135K array)
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC07305
N/A
M
ASD
Case from SSC_phase1 cohort
54564823
54775465
210643
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC08056
N/A
M
ASD
Case from SSC_phase1 cohort
55565777
55566841
1065
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU008404
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: trigonocephaly
57839689
58107019
267330
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case6242_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54900376
55311763
411388
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000029
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S35
N/A
57630255
57631071
817
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case666-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
55250109
55369144
119036
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13358.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
54566411
54772665
206255
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU2554301
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
58502490
60188190
1685701
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 70, NVIQ 62, VIQ 94)
55063001
55095800
32800
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001765
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57911290
58409928
498639
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12683.p1
N/A
M
ASD
ASD proband from SSC quad family 12683. SRS score of 66.
Full-scale IQ (FSIQ) score of 89.
57109536
57110311
776
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11544.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
56592969
56594028
1060
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-308-1
ASD
55762646
55839401
76756
Unknown
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1129A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU008404; NDAR ID NDAR_INVFD177NEL)
58008563
58132933
124371
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case138645L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56239664
56256349
16686
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
55307115
55315404
8290
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
55307115
55311763
4649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
56574005
56613771
39767
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
55086878
55122342
35465
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
54738414
54749300
10887
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case72
M
DD/ID
Low set ears, arched palate, camptodactyly, growth delay, severe speech delay, heart defects
70819603
71469636
650034
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
brandler_18_ASD_discovery_controls-controlSSC07323
N/A
M
Control
Control from SSC_phase1 cohort
54564823
54775465
210643
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036019628_
N/A
N/A
Control
No previous psychiatric history
55748741
55830477
81737
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020915_
N/A
N/A
Control
No previous psychiatric history
57229594
57351490
121897
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
N/A
N/A
Control
No previous psychiatric history
55081026
55429452
348427
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB646372_1007875297
N/A
N/A
Control
No previous psychiatric history
54579332
54628978
49647
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900721_900721
N/A
N/A
Control
No previous psychiatric history
55800843
55842076
41234
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11544.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
56592969
56594028
1060
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C33826A
N/A
F
Control
NIMH Control (NIMH ID 47216)
57628212
57831532
203321
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11290.s1
13.4
F
Control (matched sibling)
NA
NA
56574005
56575441
1437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
55307115
55311763
4649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
55307115
55311763
4649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
56574005
56599846
25842
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
55148966
55154487
5522
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
55307115
55311763
4649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
56574005
56589502
15498
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC07305
PCR or SNP data validation
Maternal
RPS15P5,ESRG,CACNA2D3
brandler_18_ASD_discovery_cases-caseSSC08056
PCR or SNP data validation
Maternal
ERC2
davis_09_ASD_discovery_cases-AU008404
Unknown
Unknown
Unknown
FLNB, SLMAP
engchuan_15_ASD_discovery_cases-case6242_4
Unknown
LINC02030,CACNA2D3-AS1,LRTM1,LINC02017,CACNA2D3
fitzgerald_14_ASD/DD/ID_discovery_cases-case000029
De novo
Unknown
Unknown
DENND6A-AS1,DENND6A
gazzellone_14_ASD_discovery_cases-case666-3
Unknown
Unknown
Unknown
LINC02030
girirajan_13a_ASD_discovery_cases-13358.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RPS15P5,ESRG,CACNA2D3
girirajan_13a_ASD_discovery_cases-AU2554301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
aCGH, Sanger sequencing
Paternal
Simplex
Unknown
CACNA2D3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001765
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP16,FLNB-AS1,ABHD6,RPP14,HTD2,PXK,SLMAP,FLNB,DNASE1L3
krumm_13_ASD_discovery_cases-case12683.p1
Maternal
Simplex
Segregated
IL17RD
krumm_15_ASD_discovery_cases-case11544.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CCDC66
nord_11_ASD_discovery_cases-308-1
Paternal
ERC2
poultney_13_ASD_discovery_cases-case99HI1129A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FLNB
prasad_12_ASD_discovery_cases-case138645L
Unknown
Unknown
Unknown
ERC2
sanders_11_ASD_discovery_cases-11145.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC66
sanders_11_ASD_discovery_cases-12360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CACNA2D3
tzetis_12_DD/ID_discovery_cases-case72
De novo
Unknown
FOXP1,FOXP1-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07323
PCR or SNP data validation
Maternal
RPS15P5,ESRG,CACNA2D3
engchuan_15_ASD_discovery_controls-control110036019628_
Unknown
ERC2
engchuan_15_ASD_discovery_controls-control110036020915_
Unknown
APPL1,ASB14,DNAH12
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
Unknown
LINC02030,LINC02017
engchuan_15_ASD_discovery_controls-controlB646372_1007875297
Unknown
RPS15P5,CACNA2D3
engchuan_15_ASD_discovery_controls-controlHABC_900721_900721
Unknown
ERC2
krumm_15_ASD_discovery_controls-control11544.s1
Illumina 1M
Paternal
CCDC66
poultney_13_ASD_discovery_controls-control04C33826A
Unknown
DENND6A-DT,PDHA1P1,DENND6A-AS1,SLMAP,DENND6A
sanders_11_ASD_discovery_controls-11290.s1
Paternal
Simplex (quad)
NA
CCDC66
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11544.s1
Paternal
Simplex (quad)
NA
CCDC66
sanders_11_ASD_discovery_controls-11563.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
CCDC66
No Animal Model Data Available