3q24CNV Type: Deletion-Duplication
Largest CNV size: 886379 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ben-david_11_ASD_discovery_cases
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
17
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
70.59% Male
12000
1
0
1
cardon_16_ASD/EP_discovery_cases
Patient genetically evaluated at Baylor College of Medicine (BCM) and presenting with paternally-inherited exonic SLC9A9 deletion
1
Case diagnosed with autistic disorder (administered ADOS-Module 2 at age of 10 years, met DSM-IV criteria); case developed focal epilepsy with secondary generalization at age of 15 years.
16 yrs.
Male
500
1
0
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
632000
0
1
1
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
364312
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
294640
2
0
2
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
2231660
2
0
2
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)
886379
2
0
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
118766
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)
129327
0
1
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
750308
1
1
2
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
2612000
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
260755
7
3
10
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
67000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
766194
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
129038
1
1
2
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)
0
0
0
0
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)
750308
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
2612000
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.
275882
11
1
12
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
766194
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ben-david_11_ASD_discovery_cases
Array SNP
Affymetrix 6.0
Canary, PennCNV
Affymetrix Genotyping Console
MLPA
cardon_16_ASD/EP_discovery_cases
N/A
aCGH
BCM Oligo V8.1 array
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
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
aCGH, PCR
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ben-david_11_ASD_discovery_cases-proband115
NA
NA
ASD
NA
NA
144782914
144794876
12000
Unknown
Deletion
Yes
cardon_16_ASD/EP_discovery_cases-case1
16 yrs.
M
ASD and epilepsy
Case diagnosed with autistic disorder (administered ADOS-Module 2 at age of 10 years, met DSM-IV criteria). Developmental milestones: delayed language development at age of 3 years. Motor and musculoskeletal evaluation: normal tone, no symptoms of spasticity (case carries de novo deletion affecting SPG4 gene). Behavioral/psychiatric evaluation: poor socialization, poor eye contact, inflexibility in new situations, and repetitive behaviors nored at age of 3 years. Epilepsy/seizures: proband developed focal epilepsy with secondary generalization at age of 15 years and has been seizure-free for more than 1 year on zonisamide and levetiracetam regimen. EEG: left frontotemporal epileptiform activity. Brain imaging: punctate temporal hyperintensity on T2-weighted MRI. Growth parameters: obesity (BMI of 31 kg/m2) and macrocephaly. Family history: the proband's father (positive for SLC9A9 deletion) reported learning disabilities and social anxiety but no formal neurologic diagnoses; proband's mother (negative for SLC9A9 deletion) developed cryptogenic epilepsy at age of 11 years; no family consanguinity.
143831899
143832363
465
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300156
N/A
M
Developmental delay/intellectual disability
CNV locus reported as 3q23-q24 in the report
143121363
143753328
631966
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1527302
Autism
147876784
148241095
364312
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU003405
Autism
145418247
145712886
294640
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU028403
Autism
145258786
145345040
86255
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003796
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144319831
146552546
2232716
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003890
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144083575
144721804
638230
GRCh38
Deletion
Yes
morrow_08_ASD_discovery_cases-case3101
NA
M
ASD
Diagnosed with autistic disorder & seizures
NA
145091098
145977477
886379
Unknown
Homozygous deletion
Yes
o'roak_12_ASD_discovery_cases-case11653.p1
NA
M
ASD/Autism
Case also identified with de novo ST3GAL3 and ADCY5 missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 44
146330696
146449462
118767
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1717A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU074503; NDAR ID NDAR_INVDP037EKV)
146070715
146200041
129327
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100657
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
145481556
145767001
285446
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case90651
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
146181450
146931757
750308
Unknown
Deletion
No
reinthaler_14_EP_discovery_cases-caseGGRE04
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
143459683
146073016
2613334
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
143705980
143713935
7956
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
144944389
145015226
70838
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
148124827
148385582
260756
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
146330325
146449462
119138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
145318898
145340736
21839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
147910465
147932198
21734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12231.p1
8.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
145241966
145452662
210697
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
147895864
147921253
25390
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
147999508
148069804
70297
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
145368955
145416510
47556
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN19
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
147147614
147082426
67000
GRCh37
Duplication
No
walker_13_ASD_discovery_cases-case1-0007-003
N/A
F
ASD
N/A
N/A
144967228
145734476
767249
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-3093-004
N/A
M
ASD
N/A
N/A
145374960
145430664
55705
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kanduri_15_ASD_discovery_controls-control_split1220
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
145370402
145499439
129038
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1525
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
147268583
147292393
23811
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
146929318
147205200
275883
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
149037784
149076028
38245
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
148733450
148737750
4301
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11653.s1
5
M
Control (matched sibling)
NA
NA
146331985
146449462
117478
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
147910465
147935804
25340
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
148733450
148737750
4301
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
145241966
145445562
203597
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12356.s1
7.8
F
Control (matched sibling)
NA
NA
145503488
145536355
32868
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
147910465
147944673
34209
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
143734353
143745595
11243
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
145368955
145416510
47556
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
144564800
144572412
7613
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ben-david_11_ASD_discovery_cases-proband115
MLPA
Paternal
Unknown
Unknown
SLC9A9
Monoallelic expression of DPYD & DOK6
cardon_16_ASD/EP_discovery_cases-case1
Possibly both parents
Paternal
Multi-generational
Unknown
SLC9A9
digregorio_17_DD/ID_discovery_cases-DECIPHER_300156
Paternal
CHST2,PBX2P1,SLC9A9-AS2,GAPDHP47,ST13P15,SLC9A9-AS1,SLC9A9
gai_11_ASD_discovery_cases-AU1527302
Inherited
0 genes
gai_11_ASD_replication_cases-AU003405
Inherited
0 genes
gai_11_ASD_replication_cases-AU028403
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003796
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LARP7P4,GM2AP1,RPL21P39,LNCSRLR,PLSCR4,PLOD2,PLSCR2,PLSCR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003890
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP144
morrow_08_ASD_discovery_cases-case3101
aCGH, PCR
Both parents
NA
NA
Noncoding 5' NHE9, DIA1
o'roak_12_ASD_discovery_cases-case11653.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
PLSCR2
poultney_13_ASD_discovery_cases-case00HI1717A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PLSCR4,PLOD2
prasad_12_ASD_discovery_cases-case100657
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case90651
Unknown
Unknown
Unknown
0 genes
reinthaler_14_EP_discovery_cases-caseGGRE04
Unknown
Unknown
Unknown
GAPDHP47,ST13P15,RNA5SP144,LARP7P4,GM2AP1,RPL21P39,LNCSRLR,PLOD2,SLC9A9
sanders_11_ASD_discovery_cases-11124.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC9A9
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HNRNPA1P20,LINC02045,LINC02046
sanders_11_ASD_discovery_cases-11653.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLSCR2
sanders_11_ASD_discovery_cases-12010.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12150.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12231.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
soueid_16_ASD_discovery_cases-caseCLIN19
De novo
Multiplex
ZIC1, ZIC4
walker_13_ASD_discovery_cases-case1-0007-003
Long-range PCR or qPCR
Paternal
Simplex
Segregated
LARP7P4,GM2AP1
walker_13_ASD_discovery_cases-case8-3093-004
Long-range PCR or qPCR
Paternal
Multiplex
Segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1220
Unknown
Intergenic CNV: nearest genes, C3orf58(dist=1659192),PLOD2(dist=287789)
kanduri_15_ASD_discovery_controls-control_split1525
Unknown
Intergenic CNV: nearest genes, ZIC1(dist=134077),AGTR1(dist=1123265)
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
RNU6-505P
sanders_11_ASD_discovery_controls-11345.s1
Maternal
Simplex (quad)
NA
HLTF
sanders_11_ASD_discovery_controls-11456.s1
Unknown
Simplex (quad)
NA
AGTR1
sanders_11_ASD_discovery_controls-11653.s1
Paternal
Simplex (quad)
NA
PLSCR2
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11924.s1
Unknown
Simplex (quad)
NA
AGTR1
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12356.s1
Paternal
Simplex (quad)
NA
LARP7P4
sanders_11_ASD_discovery_controls-12366.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Unknown
Simplex (quad)
NA
SLC9A9
sanders_11_ASD_discovery_controls-12888.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available