18q21.2CNV Type: Deletion-Duplication
Largest CNV size: 120426 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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.
Deletion
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
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.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
107
2
0
2
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
17621
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
256298
0
3
3
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
4799
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
3821432
3
1
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
126098
N/A
N/A
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
43677
0
1
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
185000
1
0
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)
31425
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
62126
0
2
2
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
188505
1
0
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
120426
5
2
7
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
1000000
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
294937
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
93666
1
1
2
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
89322
2
0
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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)
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)
62126
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.
19597
3
1
4
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
294937
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
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
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
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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-caseAU3371301
N/A
M
ASD
Case from MSSNG cohort
52343283
52343389
107
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3371303
N/A
M
ASD
Case from MSSNG cohort
52343283
52343389
107
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
54337068
54354689
17622
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14219_3520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50693782
50950080
256299
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20192_1731001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52601411
52631750
30340
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5363_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51368633
51428088
59456
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-219-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 2, NVIQ 4, VIQ 6)
55627801
55632600
4800
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000945
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54291850
55754281
1462432
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002194
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
55303869
55536679
232811
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004246
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
55339930
55500526
160597
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005259
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51875428
55658999
3783572
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11025.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
54324691
54331859
7169
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11165.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
54324691
54331859
7169
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12505.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
54277702
54287411
9710
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13943.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
55461018
55587116
126099
GRCh38
N/A
Yes
levy_11_ASD_discovery_cases-11705.p1
NA
M
ASD
NA
NA
52390719
52434395
43677
GRCh38
Duplication
No
pham_14_ASD/DD/EP/ID_discovery_cases-case52
17 yrs.
M
ADHD and behavioral difficulties
Indication for study: dysmorphic features, ADHD, anxiety, self-mutiliation, stiff joints. Level of mosaicism: 61% by CMA; 16% by FISH.
55299891
55484405
184515
GRCh38
Mosaic deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2378A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0081303; NDAR ID NDAR_INVVV268MLT)
51047045
51078469
31425
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case60921
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
49882486
49917631
35146
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85170L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
47149570
47211695
62126
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1484-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
53567505
53756009
188505
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
54322935
54334187
11253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
54322935
54334187
11253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11797.p1
15.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
55527730
55532886
5157
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
51690990
51698208
7219
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
52603967
52628492
24526
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
54168487
54288913
120427
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12646.p1
17.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
51936237
51950685
14449
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case57
F
ASD and intellectual disability
Severe ID, ASD
Severe ID
NA
NA
1000000
NCBI36
Duplication
No
yin_16_ASD_discovery_cases-case537
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
55473302
55768238
294937
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-controlHABC_900307_900307
N/A
N/A
Control
No previous psychiatric history
55161654
55219205
57552
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
N/A
N/A
Control
No previous psychiatric history
53799521
53893187
93667
GRCh38
Duplication
No
kushima_18_ASD/SCZ_discovery_controls-controlCON0435
55 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
55630660
55719981
89322
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0436
83 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
55630660
55719981
89322
GRCh38
Deletion
N/A
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
52348434
52350266
1833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
55527730
55532886
5157
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
52608895
52628492
19598
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12748.s1
4.2
M
Control (matched sibling)
NA
NA
54212545
54226736
14192
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-caseAU3371301
No validation step reported
Paternal
DCC
brandler_18_ASD_replication_cases-caseAU3371303
No validation step reported
Paternal
DCC
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
STARD6
engchuan_15_ASD_discovery_cases-case14219_3520
Unknown
HNRNPA3P16,RPL17P46,MRO,ME2,MAPK4
engchuan_15_ASD_discovery_cases-case20192_1731001
Unknown
DCC
engchuan_15_ASD_discovery_cases-case5363_3
Unknown
SS18L2P2,LINC01630
guo_18_ASD/DD/ID_discovery_cases-caseBK-219-03
aCGH, Sanger sequencing
Paternal
Simplex
Unknown
TCF4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000945
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,RAB27B,CCDC68,TCF4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002194
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4529,TCF4-AS1,TCF4-AS2,TCF4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004246
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR4529,TCF4-AS1,TCF4-AS2,TCF4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005259
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,RAB27B,CCDC68,DCC,TCF4
krumm_15_ASD_discovery_cases-case11025.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
STARD6
krumm_15_ASD_discovery_cases-case11165.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
STARD6
krumm_15_ASD_discovery_cases-case12505.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
POLI
krumm_15_ASD_discovery_cases-case13943.p1
aCGH
De novo
Simplex
Likely segregated
MIR4529,TCF4-AS1,TCF4-AS2,TCF4
levy_11_ASD_discovery_cases-11705.p1
De novo
Simplex
Segregated
VN1R76P,DCC
pham_14_ASD/DD/EP/ID_discovery_cases-case52
FISH and/or chromosome analysis
Unknown
Unknown
Unknown
MIR4529,TCF4-AS1,TCF4
poultney_13_ASD_discovery_cases-case03HI2378A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SMAD4
prasad_12_ASD_discovery_cases-case60921
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85170L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1484-0
qPCR
Paternal
Unknown
Unknown
RPL29P32,LINC01917,LINC01919
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
STARD6
sanders_11_ASD_discovery_cases-11165.p1
Paternal
Simplex (trio)
NA
STARD6
sanders_11_ASD_discovery_cases-11797.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TCF4
sanders_11_ASD_discovery_cases-12409.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12430.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DCC
sanders_11_ASD_discovery_cases-12505.p1
Maternal
Simplex (trio)
NA
SNORA37,MBD2,POLI
sanders_11_ASD_discovery_cases-12646.p1
Maternal
Simplex (quad-proband matched)
Not segregated
willemsen_12_DD/ID_discovery_cases-case57
De novo
TCF4
yin_16_ASD_discovery_cases-case537
Unknown
Unknown
Unknown
MIR4529,RPL21P126,TCF4-AS1,TCF4-AS2,TCF4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
Unknown
kushima_18_ASD/SCZ_discovery_controls-controlCON0435
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RPL21P126,TCF4
kushima_18_ASD/SCZ_discovery_controls-controlCON0436
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RPL21P126,TCF4
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
DCC
sanders_11_ASD_discovery_controls-11797.s1
Maternal
Simplex (quad)
NA
TCF4
sanders_11_ASD_discovery_controls-12430.s1
Paternal
Simplex (quad)
NA
DCC
sanders_11_ASD_discovery_controls-12748.s1
Paternal
Simplex (quad)
NA
SNORA37,MBD2
No Animal Model Data Available