8q22.2CNV Type: Deletion
Largest CNV size: 8517 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
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
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
199960
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
35250
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
230972
4
2
6
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
3735
2
0
2
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
43299
0
1
1
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
531200
3
0
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
158807
2
0
2
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
180277
2
0
2
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
95650
1
0
1
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
291910
2
0
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
180278
2
0
2
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
1776
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
71475
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
232523
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
100156
2
2
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
8517
1
0
1
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
250000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% 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
232968
5
2
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
221077
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
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
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
100156
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.
8497
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
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)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
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
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
kushima_22_SCZ_discovery_cases
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
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
bacchelli_20_ASD_discovery_cases-caseAB151
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
99442536
99642495
199960
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case167
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
99060091
99095340
35250
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14240_3260
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100081024
100171307
90284
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14253_3760
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99295121
99330386
35266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14392_5010
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99295121
99330386
35266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17031_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98956070
99187042
230973
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5332_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99295121
99330386
35266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5378_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99529301
99626261
96961
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260889
N/A
M
Developmental delay
Global developmental delay; Microcephaly; Macrotia
99099593
99103328
3736
GRCh38
Homozygous deletion
No
hu_23_ASD_discovery_cases-case9
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
99832368
99875666
43299
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001089
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
99278660
99451719
173060
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003846
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
99230249
99332189
101941
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004963
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
98920719
99451919
531201
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12985.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
99134631
99275254
140624
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13037.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99013788
99172595
158808
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0714
40 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include visual and auditory hallucinations, somatic delusions). Physical comorbidities: breast cancer. Congenital and developmental phenotypes: congenital dislocation of the hip joint. Family history: positive.
IQ > 70
99047163
99227439
180277
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1700
78 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
99118484
99159135
40652
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD1272
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
99390996
99486645
95650
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0877
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
99570451
99602934
32484
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1160
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
99264381
99556290
291910
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0714
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
99047162
99227439
180278
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1700
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
99118483
99159135
40653
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseS3
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided. Note: duplication was part of a compound heterozygous mutation affecting the VPS13B gene (along with a p.Arg2535Ter nonsense variant).
99273973
99275748
1776
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case110903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
99071866
99143340
71475
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0125B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU034004; NDAR ID NDAR_INVYT312FCD)
99467412
99699934
232523
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case60674-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
101308882
101320948
12067
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case78699L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
99314576
99410628
96053
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case80022
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
100612318
100712473
100156
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL656
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
100376542
100414840
38299
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
99494094
99502611
8518
GRCh38
Deletion
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient12
7
M
Autism
Autism, hypotonia, abnormal pattern of EEG in occipital regions and tendency to generalization during sleep
Intellectual disability (ID)
99262689
99507025
244337
GRCh38
Deletion
Yes
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-controlB324430_1007841789
N/A
N/A
Control
No previous psychiatric history
98812269
98853073
40805
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB481737_1007875851
N/A
N/A
Control
No previous psychiatric history
98920653
99140782
220130
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB828621_0057060997
N/A
N/A
Control
No previous psychiatric history
99227912
99274052
46141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
N/A
N/A
Control
No previous psychiatric history
99269658
99502611
232954
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB886495_1007851238
N/A
N/A
Control
No previous psychiatric history
99202040
99435008
232969
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
N/A
N/A
Control
No previous psychiatric history
99269658
99326220
56563
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902884_902884
N/A
N/A
Control
No previous psychiatric history
99385994
99557020
171027
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
98951518
99172595
221078
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
98452100
98460597
8498
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
99459147
99462846
3700
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB151
qPCR
Maternal
Simplex
MIR599,MIR875,RN7SL350P,VPS13B
cucinotta_23_ASD_discovery_cases-case167
Maternal
VPS13B
engchuan_15_ASD_discovery_cases-case14240_3260
Unknown
POLR2K,SPAG1,RGS22,FBXO43
engchuan_15_ASD_discovery_cases-case14253_3760
Unknown
VPS13B
engchuan_15_ASD_discovery_cases-case14392_5010
Unknown
VPS13B
engchuan_15_ASD_discovery_cases-case17031_1
Unknown
VPS13B
engchuan_15_ASD_discovery_cases-case5332_3
Unknown
VPS13B
engchuan_15_ASD_discovery_cases-case5378_3
Unknown
MIR599,MIR875,RN7SL350P,VPS13B
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260889
Both parents
Simplex
Possibly segregated
VPS13B
hu_23_ASD_discovery_cases-case9
qPCR/MLPA
Unknown
COX6C,VPS13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001089
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
VPS13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003846
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
VPS13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004963
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP85,OSR2,STK3,VPS13B
krumm_15_ASD_discovery_cases-case12985.p1
1M-Duov3
Paternal
Simplex
Segregated
VPS13B
krumm_15_ASD_discovery_cases-case13037.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
VPS13B
kushima_18_SCZ_discovery_cases-caseSCZ0714
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
Unknown
VPS13B
kushima_18_SCZ_discovery_cases-caseSCZ1700
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
VPS13B
kushima_22_ASD_discovery_cases-caseASD1272
qRT-PCR
Unknown
VPS13B
kushima_22_BPD_discovery_cases-caseBD0877
qRT-PCR
Unknown
VPS13B
kushima_22_BPD_discovery_cases-caseBD1160
qRT-PCR
Unknown
VPS13B,MIR599,MIR875
kushima_22_SCZ_discovery_cases-caseSCZ0714
qRT-PCR
Paternal
VPS13B
kushima_22_SCZ_discovery_cases-caseSCZ1700
qRT-PCR
Unknown
VPS13B
levchenko_22_DD/ID_discovery_cases-caseS3
Unknown
VPS13B
mosca_16_DCD_discovery_cases-case110903
Unknown
Unknown
Unknown
VPS13B
poultney_13_ASD_discovery_cases-case98HI0125B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR599,MIR875,RN7SL350P,VPS13B
prasad_12_ASD_discovery_cases-case60674-L
Unknown
Unknown
Unknown
SPAG1
prasad_12_ASD_discovery_cases-case78699L
Unknown
Unknown
Unknown
NIPAL2
prasad_12_ASD_discovery_cases-case80022
Unknown
Unknown
Unknown
MIR599,MIR875,VPS13B
prasad_12_ASD_discovery_cases-caseL656
Unknown
Unknown
Unknown
VPS13B
sanders_11_ASD_discovery_cases-11990.p1
Maternal
Simplex (quad-proband matched)
Segregated
VPS13B
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient12
FISH
Paternal
Unknown
Unknown
VPS13B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB324430_1007841789
Unknown
STK3
engchuan_15_ASD_discovery_controls-controlB481737_1007875851
Unknown
RN7SKP85,OSR2,STK3,VPS13B
engchuan_15_ASD_discovery_controls-controlB828621_0057060997
Unknown
VPS13B
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
Unknown
VPS13B
engchuan_15_ASD_discovery_controls-controlB886495_1007851238
Unknown
VPS13B
engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
Unknown
VPS13B
engchuan_15_ASD_discovery_controls-controlHABC_902884_902884
Unknown
MIR599,MIR875,VPS13B
krumm_15_ASD_discovery_controls-control13037.s1
1M-Duov3
Paternal
OSR2,VPS13B
sanders_11_ASD_discovery_controls-12071.s1
Maternal
Simplex (quad)
NA
STK3
sanders_11_ASD_discovery_controls-13070.s1
Maternal
Simplex (quad)
NA
VPS13B
No Animal Model Data Available