20p12.2CNV Type: Deletion
Largest CNV size: 105808 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
148240
1
2
3
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
71630
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
210000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
105808
1
0
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
85885
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
7199
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
155558
2
3
5
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
7199
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
engchuan_15_ASD_discovery_cases-case1163_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10507511
10593395
85885
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14134_2320
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9733230
9767480
34251
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8048_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9756765
9905005
148241
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU043604
Autism
10440279
10511908
71630
Unknown
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown113
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
9263279
9473794
210516
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0018-003
NA
M
ASD
NA
NA
11390445
11496252
105808
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1163_3
NA
M
ASD
NA
NA
10507511
10593395
85885
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
9722322
9729521
7200
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-controlB621185_1007852924
N/A
N/A
Control
No previous psychiatric history
9718379
9783615
65237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
N/A
N/A
Control
No previous psychiatric history
9756765
9905005
148241
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB892612_1007874849
N/A
N/A
Control
No previous psychiatric history
9586610
9621308
34699
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
N/A
N/A
Control
No previous psychiatric history
9756765
9898518
141754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900709_900709
N/A
N/A
Control
No previous psychiatric history
10403333
10558891
155559
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
9722322
9729521
7200
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case1163_3
Unknown
SLX4IP
engchuan_15_ASD_discovery_cases-case14134_2320
Unknown
PAK5
engchuan_15_ASD_discovery_cases-case8048_202
Unknown
PAK5
gai_11_ASD_replication_cases-AU043604
Inherited
C20orf94
maini_18_ASD/DD/ID_discovery_cases-case_unknown113
Maternal
Unknown
Unknown
PLCB4
marshall_08_ASD_discovery_cases-MM0018-003
qPCR, qmPCR
Unknown
NA
NA
pinto_10_ASD_discovery_cases-case1163_3
Affy5.0
paternal
NA
NA
SLX4IP
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PAK5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB621185_1007852924
Unknown
PAK5
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
Unknown
PAK5
engchuan_15_ASD_discovery_controls-controlB892612_1007874849
Unknown
PAK5
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
Unknown
PAK5
engchuan_15_ASD_discovery_controls-controlHABC_900709_900709
Unknown
MKKS,SLX4IP
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
PAK5
No Animal Model Data Available