2q36.2CNV Type: Deletion
Largest CNV size: 1426 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
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
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
16668
2
0
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
472708
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
32859
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
12536
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
1426
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
19269
4
0
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
alayadhi_16_ASD_discovery_cases-caseAUT5-1
N/A
M
Autism
CARS score of 36.0; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 137.
227376905
227393572
16668
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT5-2
N/A
M
Autism
CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
227376905
227393572
16668
GRCh38
Deletion
Yes
feliciano_19_ASD_discovery_cases-caseSP0036288
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
224474245
224946952
472708
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1145301
Autism
224902633
224935491
32859
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1145302
Autism
224902633
224935491
32859
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case12286.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
224873995
224886531
12537
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
224871403
224872829
1427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
224871403
224872829
1427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
224871403
224872829
1427
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
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
224343261
224362530
19270
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
224871403
224872829
1427
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
224871403
224872829
1427
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
225063802
225065770
1969
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT5-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
SCYGR1,TM4SF20
alayadhi_16_ASD_discovery_cases-caseAUT5-2
qPCR
De novo (CNV not observed in either parent)
Multiplex
SCYGR1,TM4SF20
feliciano_19_ASD_discovery_cases-caseSP0036288
Maternal
Simplex
CCDC195,CUL3,DOCK10
null
gai_11_ASD_discovery_cases-AU1145301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1145302
Inherited
0 genes
krumm_15_ASD_discovery_cases-case12286.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DOCK10
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
DOCK10
sanders_11_ASD_discovery_cases-12363.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOCK10
sanders_11_ASD_discovery_cases-12606.p1
Paternal
Simplex (trio)
NA
DOCK10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11564.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12152.s1
Paternal
Simplex (quad)
NA
DOCK10
sanders_11_ASD_discovery_controls-12363.s1
Maternal
Simplex (quad)
NA
DOCK10
sanders_11_ASD_discovery_controls-12420.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available