2q14.2CNV Type: Deletion-Duplication
Largest CNV size: 443988 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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
186000
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
278402
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
31017
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
876000
0
2
2
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
239405
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
321042
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
29204
0
3
3
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
3843
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
121684915
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
515000
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
278403
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
54328
4
0
4
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
443988
5
1
6
williamson_15_DD/EP_discovery_cases
Monozygotic twin sisters carrying a de novo 2q14.2 deletion affecting the PTPN4 gene.
2
Both individuals presented with developmental delay (DD), seizures (EP), and stereotypy.
17 yrs.
Female
141805
2
0
2
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
173451
1
1
2
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
239405
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
420403
0
1
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
29204
0
1
1
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
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)
54328
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.
443988
2
2
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
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
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
williamson_15_DD/EP_discovery_cases
Australia
aCGH
Agilent Sureprint G3Hmn CGH 400K
NA
NA
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
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_300369
N/A
M
Developmental delay/intellectual disability
120842718
121028767
186050
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4260_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
119129830
119408232
278403
GRCh38
Duplication
Yes
gai_11_ASD_replication_cases-AU051503
Autism
121513789
121544805
31017
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13038.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
118825954
119265954
440001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU064104
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
120925954
121805954
880001
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case17113
NA
NA
ASD/autism
NA
NA
119168827
119408232
239406
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13038.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
118942298
119263340
321043
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case40
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
120947342
120976546
29205
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case41
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
120947342
120976546
29205
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case42
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
120947342
120976546
29205
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case15
6 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
120808305
120812148
3844
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0027-000
NA
M
ASD
NA
NA
121149194
121211109
61916
GRCh38
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case218
10 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: flat nasal bridge, high arched palate, short philtrum
120484331
120999582
515252
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case4260_1
N/A
M
ASD
Case previously reported in Griswold et al. 2012a (family 17113). Autism (based on medical history and ADI-R), developmental delay (walked at 21 mo), speech disorder, ADHD, psychosis, suicide threats, bilateral 5th finger clinodactyly, curving of toes 3-4, occipital and facial flattening, macrocephaly, mild obesity, respiratory syncytial virus (RSV) infection at 5 mo. Family history: Mother unaffected; father with alcoholism, drug addiction, and heart attack; no siblings.
Mild ID
119129830
119408232
278403
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case139373L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
120769342
120783711
14370
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59144
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
120775235
120783711
8477
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60421
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
121625855
121680182
54328
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case98105
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118838993
118870428
31436
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
118466992
118476096
9105
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
121504518
121504758
241
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
118303014
118304817
1804
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
118466992
118476096
9105
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
120490359
120506895
16537
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
118830134
119274122
443989
GRCh38
Duplication
No
williamson_15_DD/EP_discovery_cases-caseTwinA
17 yrs.
F
Developmental delay, seizures, and stereotypy
Patient also deposited in DECIPHER (DECIPHER ID 294047). Premature birth (36 weeks gestation), quiet and placid behavior as a baby, feeding difficulties, slow weight gain, delayed ability to roll over (not yet achieved at 9 months), delayed ability to crawl (not yet crawling at 9 months), infantile muscular hypotonia (described as being floppy at 9 months), delayed ability to sit (12 months), delayed ability to walk (3 years 4 months), delayed fine motor development (pincer grip at 2 years), speech delay (expressive language delay with first words between 5 and 6 years), difficult to comprehend speech, stereotypic hand movements, seizures (onset around 2.5 years), abnormal EEG (symmetric background 8-10 Hz activity posteriorly and frequent sharp/spike discharges in the left occipital region at 2.5 years; poorly formed background activity, multifocal sharp discharges bilaterally, and frequent spike and wave generalized paroxysmal discharges at 10 years), prolonged corrected QT at 17 years, mild sleep disturbance (occasional walking at night, laughing, talking, and singing), bruxism (since resolved), chewing difficulties, abnormal eating behavior (fussy eater), constipation, short stature (height <1st %ile), mild trigonocephaly, high nasal bridge, almond-shaped eyes, prominent lips, thickened gums, widely spaced teeth, narrow palate, shortened 4th metatarsals, feet that were cool to palpation and mottled, hirsutism on the back, slightly wide-based gait, drooling. Family history: deletion was also observed in her similarly affected monozygotic twin sister and was not observed in their healthy parents or their two healthy siblings.
119827183
119968987
141805
GRCh38
Deletion
No
williamson_15_DD/EP_discovery_cases-caseTwinB
17 yrs.
F
Developmental delay, seizures, and stereotypy
Patient also deposited in DECIPHER (DECIPHER ID 294048). Premature birth (36 weeks gestation), quiet and placid behavior as a baby, feeding difficulties, slow weight gain, delayed ability to roll over (not yet achieved at 9 months), delayed ability to crawl (not yet crawling at 9 months), infantile muscular hypotonia (described as being floppy at 9 months), delayed ability to sit (15 months), delayed ability to walk (4 years 4 months), delayed fine motor development (pincer grip at 2 years), speech delay (expressive language delay with single words at 6 years), developmental regression (language regression resulting in loss of speech at 9 years), generalized seizures (onset around 2.5 years), abnormal EEG (frequent polyspike discharges alternating from the right to left hemisphere at 12 years; partial seizures with an onset from the left frontotemporal region and continuous generalized slowing of background activity at 13 years), mild sleep disturbance (occasional walking at night, laughing, talking, and singing), bruxism (since resolved), chewing difficulties, abnormal eating behavior (fussy eater), constipation, decreased body weight (<3rd %ile), short stature (height <1st %ile), microcephaly (head circumference 2nd %ile), mild trigonocephaly, high and wide nasal bridge, almond-shaped eyes, thickened gums, widely spaced teeth, hirsutism of the back, small and cold hands and feet, shortened 4th metatarsals bilaterally, stereotypic hand movements, wide-based gait. Family history: deletion was also observed in her similarly affected monozygotic twin sister and was not observed in their healthy parents or their two healthy siblings.
119827183
119968987
141805
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-control110036023422_
N/A
N/A
Control
No previous psychiatric history
119330100
119503551
173452
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
N/A
N/A
Control
No previous psychiatric history
118977469
119019080
41612
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13038.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
118842937
119263340
420404
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
118466992
118476096
9105
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
118303014
118304817
1804
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12548.s1
10.2
F
Control (matched sibling)
NA
NA
120813090
120837504
24415
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13038.s1
5.8
M
Control (matched sibling)
NA
NA
118830134
119274122
443989
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300369
Maternal
GLI2
engchuan_15_ASD_discovery_cases-case4260_1
De novo
C1QL2,RN7SL468P,STEAP3-AS1,DBI,STEAP3,C2orf76
gai_11_ASD_replication_cases-AU051503
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-13038.p1
Unknown
Simplex
Unknown
EN1,C1QL2,RN7SL468P,STEAP3-AS1,LINC01956,MARCO,STEAP3
girirajan_13a_ASD_discovery_cases-AU064104
Unknown
Multiplex
Unknown
RNU4ATAC,RPL12P15,NPM1P32,LINC01823,NIFK-AS1,NIFK,GLI2,TFCP2L1,TSN,CLASP1
griswold_12_ASD_discovery_cases-case17113
qPCR
De novo
Simplex
Segregated
RN7SL468P,STEAP3-AS1,DBI,STEAP3,C2orf76
krumm_15_ASD_discovery_cases-case13038.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
C1QL2,RN7SL468P,STEAP3-AS1,MARCO,STEAP3
larson_17_ASD_discovery_cases-case40
Unknown
Unknown
GLI2
larson_17_ASD_discovery_cases-case41
Unknown
Unknown
GLI2
larson_17_ASD_discovery_cases-case42
Unknown
Unknown
GLI2
lee_17_ASD/DD/ID/MCA_discovery_cases-case15
Unknown
GLI2
marshall_08_ASD_discovery_cases-NA0027-000
qPCR, qmPCR
Unknown
NA
NA
oikonomakis_16_ASD_discovery_cases-case218
Unknown
GLI2
pinto_14_ASD_discovery_cases2-case4260_1
qPCR (Griswold et al. 2011, PMID: 21360829)
De novo
Simplex
Likely segregated (no siblings)
C1QL2,RN7SL468P,STEAP3-AS1,DBI,STEAP3,C2orf76
prasad_12_ASD_discovery_cases-case139373L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59144
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60421
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case98105
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11262.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11538.p1
Unknown
Simplex (quad-proband matched)
Segregated
CLASP1
sanders_11_ASD_discovery_cases-12137.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12144.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EN1,C1QL2,RN7SL468P,STEAP3-AS1,LINC01956,MARCO,STEAP3
williamson_15_DD/EP_discovery_cases-caseTwinA
De novo
Multiplex (monozygotic twins)
Segregated
PTPN4
williamson_15_DD/EP_discovery_cases-caseTwinB
De novo
Multiplex (monozygotic twins)
Segregated
PTPN4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023422_
Unknown
DBI,TMEM37,C2orf76,SCTR
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
Unknown
MARCO
krumm_15_ASD_discovery_controls-control13038.s1
Illumina 1MDuo
Maternal
EN1,C1QL2,RN7SL468P,STEAP3-AS1,MARCO,STEAP3
sanders_11_ASD_discovery_controls-11262.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12063.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12548.s1
Maternal
Simplex (quad)
NA
GLI2
sanders_11_ASD_discovery_controls-13038.s1
Maternal
Simplex (quad)
NA
EN1,C1QL2,RN7SL468P,STEAP3-AS1,LINC01956,MARCO,STEAP3
No Animal Model Data Available