Xq21.33CNV Type: Deletion-Duplication
Largest CNV size: 201249 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
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.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
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
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1299000
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
70352
2
1
3
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
738273
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
273090
0
2
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
997000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
89046
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
39580
1
1
2
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
912816
3
2
5
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
201249
4
2
6
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls2
Male control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan screened for CNVs at the X chromosome
525
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
100% Male
0
0
0
0
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
105642
1
6
7
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
122842
1
1
2
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)
912816
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.
198854
12
10
22
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
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)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_controls2
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
chen_17_ASD_discovery_cases-caseU-728
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 13 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 13); Qualitative abnormalities in nonverbal communication, current score 2 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 1 (past score 1); Abnormality of development evident at or before 36 months, past score 1. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 107; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 33. Epilepsy: no history of epilepsy.
Performance IQ 107, Verbal IQ 109, Full-scale IQ 108
97450630
98749849
1299220
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14047_820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95140229
95210581
70353
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21003_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95089758
95136827
47070
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5440_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95132630
95172209
39580
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97669841
98038562
368722
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97300288
98038562
738275
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004344
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95170882
95822404
651523
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005046
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96635070
96965204
330135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12834.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97429649
97599317
169669
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12834.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
96685058
96958148
273091
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-case1-1813
NA
M
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Temporo-sylvian arachnoidal cyst.
Initial cognitive development: Delayed. Cognitive regression: No.
94881521
95878675
997155
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case128203
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis DCD, ADHD and reading disorder; paternal diagnosis reading disorder.
96383286
96472331
89046
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5209_3
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (50%ile)
95936387
95949943
13557
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5440_3
NA
M
ASD
NA
NA
95132630
95172209
39580
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case117482L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
95853392
95864822
11431
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case120617
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
95110250
95143961
33712
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case161584L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
96492741
97405556
912816
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47556
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
96415067
96426115
11049
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case89851L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
95931964
95950952
18989
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
95987662
95996374
8713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
97843842
97847967
4126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
98543261
98744510
201250
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
98978239
98982029
3791
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
95070123
95120990
50868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
97516341
97584658
68318
GRCh38
Duplication
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-controlB178717_1007875826
N/A
N/A
Control
No previous psychiatric history
95094242
95140404
46163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
N/A
N/A
Control
No previous psychiatric history
95146999
95209138
62140
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
N/A
N/A
Control
No previous psychiatric history
97738230
97843873
105644
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
N/A
N/A
Control
No previous psychiatric history
95094242
95132630
38389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
N/A
N/A
Control
No previous psychiatric history
95723602
95824871
101270
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
N/A
N/A
Control
No previous psychiatric history
95093662
95136827
43166
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
N/A
N/A
Control
No previous psychiatric history
95083740
95136827
53088
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27275
Control
96871739
96994580
122842
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27520
Control
94767941
94787546
19606
Unknown
Deletion
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
95070123
95120990
50868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
96264021
96268959
4939
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
95099206
95140404
41199
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
96676374
96697327
20954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
95140229
95140404
176
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
95093662
95140404
46743
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
95140229
95140404
176
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
96804033
96823538
19506
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
95084172
95126451
42280
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
96676374
96694318
17945
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
98543261
98742115
198855
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
95078215
95140404
62190
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
98587440
98649773
62334
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
96676374
96697327
20954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
95093662
95126451
32790
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12507.s1
26.1
F
Control (matched sibling)
NA
NA
95140229
95140404
176
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
95132630
95176205
43576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
95093662
95140404
46743
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
96683583
96694318
10736
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
95078215
95126451
48237
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
95093662
95113037
19376
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
95078215
95113037
34823
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-728
RT-qPCR
Unknown
RPL6P29,EEF1A1P15,HMGB1P32,DIAPH2,DIAPH2-AS1
engchuan_15_ASD_discovery_cases-case14047_820
Unknown
engchuan_15_ASD_discovery_cases-case21003_1
Unknown
engchuan_15_ASD_discovery_cases-case5440_3
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL74P,DIAPH2,DIAPH2-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004344
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CALM1P1,RNA5SP510,HNRNPDLP3,HNRNPDLP1,RPS7P13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005046
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPA4,NDUFB5P2,DIAPH2
krumm_15_ASD_discovery_cases-case12834.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
DIAPH2,DIAPH2-AS1
krumm_15_ASD_discovery_cases-case12834.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RPA4,NDUFB5P2,DIAPH2
lesca_12_EP_discovery_cases-case1-1813
Unknown
Unknown
Unknown
MIR548M,CALM1P1,RNA5SP510,HNRNPDLP3,HNRNPDLP1,RPS7P13
mosca_16_DCD_discovery_cases-case128203
Unknown
Multi-generational
Unknown
RN7SKP194
pinto_10_ASD_discovery_cases-case5209_3
qPCR
maternal
Multiplex
Segregated
DIAPH2 intronic
pinto_10_ASD_discovery_cases-case5440_3
Agilent1M
maternal
NA
NA
prasad_12_ASD_discovery_cases-case117482L
Unknown
Unknown
Unknown
DIAPH2
prasad_12_ASD_discovery_cases-case120617
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case161584L
Unknown
Unknown
Unknown
DIAPH2
prasad_12_ASD_discovery_cases-case47556
Unknown
Unknown
Unknown
DIAPH2
prasad_12_ASD_discovery_cases-case89851L
Unknown
Unknown
Unknown
DIAPH2
sanders_11_ASD_discovery_cases-11025.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12275.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12572.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DIAPH2,DIAPH2-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
Unknown
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
Unknown
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
Unknown
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
Unknown
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
Unknown
nord_11_ASD_discovery_controls-04C27275
0 genes
nord_11_ASD_discovery_controls-04C27520
0 genes
sanders_11_ASD_discovery_controls-11277.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11530.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
DIAPH2
sanders_11_ASD_discovery_controls-11766.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12006.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
DIAPH2
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Paternal
Simplex (quad)
NA
DIAPH2
sanders_11_ASD_discovery_controls-12275.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12281.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12323.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
DIAPH2
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12507.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12653.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12736.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Paternal
Simplex (quad)
NA
DIAPH2
sanders_11_ASD_discovery_controls-12888.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available