18p11.31CNV Type: Deletion-Duplication
Largest CNV size: 1309813 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
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
Identification of small exonic CNV from whole-exome sequence data and application to 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.
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
172879
3
0
3
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
228620
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
206403
4
1
5
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
321618
1
0
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
17796
1
0
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
434444
1
1
2
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
172376
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
4062
1
0
1
martucci_23_ASD_discovery_cases
Children with ASD recruited between February 2016 and August 2021 at the Child Neuropsychiatry Unit of Umberto I Hospital, Sapienza University
130
Cases clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS
Mean age, 3.4 yrs. (range, 2-6 yrs)
83.85% Male
128820
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
206404
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)
58412
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
32235
2
0
2
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
1309813
13
3
16
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
170111
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
61715
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
228797
1
3
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
876303
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
32235
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.
341338
6
2
8
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
170111
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
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
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
martucci_23_ASD_discovery_cases
Italy
Array SNP
Affymetrix Genome-Wide Human 6.0
Affymetrix ChAS v.4.0
RT-PCR
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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-case1-0295-003
N/A
M
ASD
Case from MSSNG cohort
3640053
3662442
22390
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2793302
N/A
F
ASD
Case from MSSNG cohort
4431140
4604018
172879
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2793303
N/A
M
ASD
Case from MSSNG cohort
4431140
4604018
172879
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case201
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
6731435
6960054
228620
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1140_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5014367
5220770
206404
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4545834
4582624
36791
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20145_1542001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4462824
4495137
32314
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4306_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4462824
4495137
32314
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8578_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4462824
4494321
31498
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264590
N/A
M
Autism and DD
Autism; Global developmental delay; Recurrent hand flapping; Unsteady gait
3200246
3521864
321619
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0803301
Autism
3304872
3322667
17796
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU056503
Autism
4844252
5278695
434444
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU056503
Autism
3128553
3178976
50424
Unknown
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case4
8 yrs.
F
Developmental delay/intellectual disability
Microcephaly, single transverse palmar crease, acrosyndactyly, microphthalmia, optic nerve atrophy, downslanting palpebral fissures. Karyotyping: r(11)(p15.5q24.1)
Developmental delay/intellectual disability
3919884
4092260
172377
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004972
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3447721
3451783
4063
GRCh38
Deletion
Yes
martucci_23_ASD_discovery_cases-case10
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: severe. Language and communication evaluation: non-verbal. EEG: negative. Family history: negative.
DQ/IQ score <50.
4054162
4182981
128820
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1140_3
NA
M
ASD
NA
NA
5014367
5220770
206404
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1409C
N/A
M
ASD
ASD case from AGRE (AGRE ID AU056503; NDAR ID NDAR_INVBZ835BR2)
3135547
3193958
58412
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case140700
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
4447642
4479876
32235
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51231L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4452180
4482116
29937
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
3270399
3277469
7071
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11397.p1
11.2
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
4251031
4313044
62014
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
4507442
4510629
3188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
4329202
4335455
6254
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
4025495
4028501
3007
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
4462824
4493978
31155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
3338829
3347815
8987
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
4330954
4335455
4502
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
4506842
4510629
3788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
4623136
4964475
341340
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
5944835
5950154
5320
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
3789107
3794759
5653
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
5562156
6871969
1309814
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
4506842
4510629
3788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
4309142
4313044
3903
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
5073443
5074168
726
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case530
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4092326
4262436
170111
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD75-SB-1213
N/A
M
OCD
Primary diagnosis: OCD. Additional phenotype(s): separation anxiety disorder, a Tourettes disorder with tic, operational defiant and panic disorders and agoraphobia
3599596
3661308
61713
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036016269_
N/A
N/A
Control
No previous psychiatric history
4417464
4646260
228797
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB955457_1007875817
N/A
N/A
Control
No previous psychiatric history
7094613
7148019
53407
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
N/A
N/A
Control
No previous psychiatric history
4462824
4495137
32314
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902668_902668
N/A
N/A
Control
No previous psychiatric history
4251031
4313044
62014
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11279.s1
NA
M
Control
NA
NA
6308173
7184476
876304
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11397.s1
8.3
F
Control (matched sibling)
NA
NA
4251031
4313044
62014
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
4330954
4335455
4502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
3611243
3618507
7265
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
4025495
4028501
3007
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
4462824
4497052
34229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
4623136
4964475
341340
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
4060577
4062485
1909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
4309142
4313044
3903
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-case1-0295-003
No validation step reported
Maternal
DLGAP1
brandler_18_ASD_replication_cases-caseAU2793302
No validation step reported
Maternal
DLGAP1
brandler_18_ASD_replication_cases-caseAU2793303
No validation step reported
Maternal
DLGAP1
cucinotta_23_ASD_discovery_cases-case201
Maternal
ARHGAP28,LAMA1,LINC00668,SCML2P1,RNU6-916P
engchuan_15_ASD_discovery_cases-case1140_3
Unknown
BOD1P2,LINC01892,AKAIN1
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
engchuan_15_ASD_discovery_cases-case20145_1542001
Unknown
engchuan_15_ASD_discovery_cases-case4306_1
Unknown
engchuan_15_ASD_discovery_cases-case8578_201
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264590
De novo
Simplex
Segregated
MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,TGIF1,GAPLINC,MYL12B,MYOM1,DLGAP1
gai_11_ASD_discovery_cases-AU0803301
Inherited
0 genes
gai_11_ASD_replication_cases-AU056503
Inherited
LOC642597, C18orf18, LOC339290
gai_11_ASD_replication_cases-AU056503
Inherited
MYOM1
iourov_12_ASD/ID/EP_discovery_cases-case4
FISH
Unknown
Unknown
Unknown
GAPDHP66,DLGAP1-AS4,DLGAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004972
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGIF1
martucci_23_ASD_discovery_cases-case10
RT-PCR
Paternal
Simplex
DLGAP1
pinto_10_ASD_discovery_cases-case1140_3
Illumina550;Affy5.0
maternal
NA
NA
BOD1P2,LINC01892,AKAIN1
poultney_13_ASD_discovery_cases-case00HI1409C
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MYOM1
prasad_12_ASD_discovery_cases-case140700
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case51231L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11249.p1
Unknown
Simplex (trio)
NA
MYL12B
sanders_11_ASD_discovery_cases-11397.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DLGAP1-AS5,DLGAP1
sanders_11_ASD_discovery_cases-11409.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11424.p1
Paternal
Simplex (quad-proband matched)
Segregated
DLGAP1
sanders_11_ASD_discovery_cases-11537.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DLGAP1
sanders_11_ASD_discovery_cases-11578.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01895
sanders_11_ASD_discovery_cases-11710.p1
Paternal
Simplex (trio)
NA
DLGAP1
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DLGAP1
sanders_11_ASD_discovery_cases-12629.p1
Maternal
Simplex (trio)
NA
MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,L3MBTL4-AS1,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,L3MBTL4
sanders_11_ASD_discovery_cases-12701.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DLGAP1
sanders_11_ASD_discovery_cases-13168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case530
Unknown
Unknown
Unknown
DLGAP1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD75-SB-1213
RT-qPCR or WGS
Paternal
DLGAP1-AS2,DLGAP1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016269_
Unknown
DLGAP1
engchuan_15_ASD_discovery_controls-controlB955457_1007875817
Unknown
SLC25A51P2,LAMA1
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902668_902668
Unknown
DLGAP1-AS5,DLGAP1
levy_11_ASD_discovery_controls-11279.s1
Maternal
Simplex
NA
MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LINC01387,ARHGAP28,LAMA1,L3MBTL4
sanders_11_ASD_discovery_controls-11397.s1
Maternal
Simplex (quad)
NA
DLGAP1-AS5,DLGAP1
sanders_11_ASD_discovery_controls-11475.s1
Both parents
Simplex (quad)
NA
DLGAP1
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
DLGAP1
sanders_11_ASD_discovery_controls-11537.s1
Paternal
Simplex (quad)
NA
DLGAP1
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12030.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Both parents
Simplex (quad)
NA
DLGAP1
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
DLGAP1
No Animal Model Data Available