15q22.2CNV Type: Deletion-Duplication
Largest CNV size: 106228 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
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.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
273
1
0
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
112002
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
85620
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
62890
0
2
2
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
2306608
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
106228
0
1
1
lowther_23_ASD_discovery_cases
Probands from quartet families from the Simons Simplex Collection screened by short-read genome sequencing to identify CNVs not detected by CMA or exome sequencing.
1612
ASD diagnosis in all cases was confirmed by ADOS and ADI-R.
NA
NA
507
1
0
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
21880
6
0
6
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
106108
6
2
8
yamamoto_14_DD/ID/EP_discovery_cases
Patients with microdeletions involving the 15q22.2 region presenting with neurological symptoms
4
Developmental delay/intellectual disability (all 4 cases), epilepsy (3 cases), and autistic features (1 case)
Range, 3-14 yrs.
50% Male
654000
1
0
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
287875
0
1
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
175686
5
0
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
62752
0
1
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
106228
0
1
1
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)
21880
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.
99497
5
2
7
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
163827
0
1
1
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
287875
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lowther_23_ASD_discovery_cases
United States
Short-read WGS
Illumina
Manta v.1.4.0, Smoove v.0.2.3, WHAM-GRAPHENING v.1.7.0, GATK-gCNV, cnMOPS v.1.12.0, MELT v.2.0.5.
GATK-SV
None
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
yamamoto_14_DD/ID/EP_discovery_cases
N/A
aCGH
Agilent 60K, Agilent 44K
Microarray
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
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
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
60502598
60502871
274
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4241_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62869339
62981341
112003
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D0455
16 mos. 6 days
M
Developmental delay
59256275
59341894
85620
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case11199.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
59458626
59521378
62753
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13871.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
63126858
63189748
62891
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD2030
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
60211461
62518068
2306608
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11199.p1
NA
M
ASD
NA
NA
59418509
59524736
106228
GRCh38
Duplication
No
lowther_23_ASD_discovery_cases-case14378.p1
NA
F
ASD
Case diagnosed with autism spectrum disorder.
60500553
60501059
507
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case115738L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57867365
57889244
21880
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case129151L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57867365
57889244
21880
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case54259
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57632674
57640960
8287
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64380L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57867365
57889244
21880
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case69180
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57867365
57889244
21880
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87750
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
60313757
60334357
20601
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
60924776
60979881
55106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
62096585
62099683
3099
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
60028197
60060917
32721
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11199.p1
10.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
59418381
59524489
106109
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
59531427
59543398
11972
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
59787669
59798183
10515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
59479763
59482823
3061
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
59479763
59487335
7573
GRCh38
Deletion
No
yamamoto_14_ID/EP_discovery_cases-case5
13 yrs.
M
Intellectual disability and epilepsy
Case present in DECIPHER database (DECIPHER ID #250670). Birth/neonatal history: born at 40 weeks of gestation after uneventful pregnancy; birth weight of 3240 g (M). Developmental milestones: started to walk unsupported at 16 months of age; able to say first meaningful word at 36 months of age. Epilepsy/seizures: epileptic convulsion without fever at age of 3.5 years; second seizure attack with aphasia, ataxia, and drowsiness at age of 9 years; several epileptic episodes later; now under sodium valproate therapy. EEG: paroxysmal activity in frontal cerebral hemispheres observed at age of 3.5 years; subsequent EEG at age of 9 years showed slow paroxysmal activities in posterior-parietal-occipital areas of right hemisphere. Brain imaging: brain MRI revealed slight ventricular asymmetry. Dysmorphic features: square face, down-slanting palpebral fissures, high nasal bridge, anteverted nares, thin lips, downturned corners of mouth, strabismus. Growth parameters: within normal range; height of 147 cm (10th-25th %ile), weight of 47 kg (50th-75th %ile), and OFC of 55 cm (50th-75th %ile). Family history: father stutters since childhood and has mild intellectual disability (WAIS-R IQ score of 59).
Mild intellectual disability; WISC-R performed at age of 13 years revealed IQ of 65
60361023
61014721
653699
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case479
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
59451811
59739685
287875
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-control110036022853_
N/A
N/A
Control
No previous psychiatric history
60220496
60329612
109117
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
N/A
N/A
Control
No previous psychiatric history
60924776
60980465
55690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
N/A
N/A
Control
No previous psychiatric history
60924776
60977248
52473
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
N/A
N/A
Control
No previous psychiatric history
62869339
62981341
112003
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
N/A
N/A
Control
No previous psychiatric history
61463212
61638898
175687
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11199.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
59458626
59521378
62753
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11199.s1
NA
M
Control
NA
NA
59418509
59524736
106228
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
60924776
60977248
52473
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11199.s1
13.6
M
Control (matched sibling)
NA
NA
59418381
59517878
99498
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
61910283
61991902
81620
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
59531427
59543398
11972
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
59778203
59803362
25160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12385.s1
10.7
F
Control (matched sibling)
NA
NA
59787669
59803362
15694
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13021.s1
7.3
F
Control (matched sibling)
NA
NA
59694982
59704168
9187
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
62724984
62888810
163827
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
RORA-AS1,RORA
engchuan_15_ASD_discovery_cases-case4241_1
Unknown
han_22_ASD/DD/ID_discovery_cases-case19D0455
Unknown
MYO1E,RNU6-212P
krumm_15_ASD_discovery_cases-case11199.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
FAM81A
krumm_15_ASD_discovery_cases-case13871.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
LACTB,RPS27L,RAB8B
kushima_22_BPD_discovery_cases-caseBD2030
qRT-PCR
Unknown
ANXA2,VPS13C,ICE2,TLN2,C2CD4A,GOLGA2P11,CYCSP38,C2CD4B,HMGN1P26,NPM1P47,LINC02349,RNA5SP397,RORA-AS2,RORA,VPS13C-DT,RORA-AS1,MIR8067,MIR6085
levy_11_ASD_discovery_cases-11199.p1
Maternal
Simplex
Not segregated
FAM81A
lowther_23_ASD_discovery_cases-case14378.p1
De novo
Simplex
Segregated
RORA,RORA-AS1
prasad_12_ASD_discovery_cases-case115738L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case129151L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case54259
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64380L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case69180
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case87750
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RORA
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MESTP2,FOXB1
sanders_11_ASD_discovery_cases-11199.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FAM81A
sanders_11_ASD_discovery_cases-12052.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12552.p1
Unknown
Simplex (quad-proband matched)
Segregated
FAM81A
sanders_11_ASD_discovery_cases-13169.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FAM81A
yamamoto_14_ID/EP_discovery_cases-case5
Microarray
Paternal
Paternal
Multi-generational
Possibly segregated
CYCSP38,RNA5SP397,ANXA2,ICE2,RORA-AS1,RORA-AS2,RORA
yin_16_ASD_discovery_cases-case479
Unknown
Unknown
Unknown
RNA5SP396,PIGHP1,GTF2A2,BNIP2,FAM81A,GCNT3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022853_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
Unknown
RORA
engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
Unknown
RORA
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
Unknown
krumm_15_ASD_discovery_controls-control11199.s1
Illumina 1M
Maternal
FAM81A
levy_11_ASD_discovery_controls-11199.s1
Maternal
Simplex
NA
FAM81A
sanders_11_ASD_discovery_controls-11038.s1
Paternal
Simplex (quad)
NA
RORA
sanders_11_ASD_discovery_controls-11199.s1
Maternal
Simplex (quad)
NA
FAM81A
sanders_11_ASD_discovery_controls-11345.s1
Maternal
Simplex (quad)
NA
VPS13C
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12377.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12385.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13021.s1
Paternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
Unknown
N/A (both twins typically developing)
MIR190A,TLN2
No Animal Model Data Available