22q11.22-q11.23CNV Type: Duplication
Largest CNV size: 539106 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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
2043174
0
2
2
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
1851103
0
1
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
1851104
0
1
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
2613000
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
1977574
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
2019390
6
5
11
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
1566306
0
1
1
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
2029367
1
1
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
2029368
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2000000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
539106
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
385000
1
0
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
1990167
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
656280
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
2061829
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
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
2005193
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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)
656280
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
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
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case31C
0 yrs.
M
Polydactyly, macrocephaly, hydronephrosis, atrial septal defect
22620491
24663664
2043174
GRCh38
Duplication
No
akkus_24_ASD/DD/ID_discovery_cases-case44A
17 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Tetralogy of Fallot, microcephaly, blepharophimosis, short philtrum, highly arched eyebrows, low-set and prominent ears, macrodontia, central and cerebellar atrophy.
Developmental delay/intellectual disability
22655579
24537101
1881523
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case6
13 yrs.
F
Restlessness, low memory, normal CT scan. Growth parameters: height 1.39 m, weight 51 kg, head circumference 53 cm. Family history: born to non-consanguineous parents.
22749561
24600663
1851103
GRCh38
Duplication
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case335
13 yrs.
F
Intellectual disability
Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 53 cm, height 139 cm, weight 51 kg.
Intellectual disability (HP:0001249)
22749560
24600663
1851104
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU004104
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
22035601
24604033
2568433
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-294-03
N/A
M
ASD
Neural tube defect
22625125
24602699
1977575
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000695
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22669543
24563859
1894317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001580
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22660238
23305976
645739
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22660238
23305976
645739
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001961
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22686122
24577664
1891543
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002205
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22686122
24577664
1891543
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002452
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22651209
23299955
648747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002555
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22703701
23285204
581504
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002707
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22703701
24669609
1965909
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003795
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22669543
24563859
1894317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004034
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22686122
23315617
629496
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004302
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22686122
23315617
629496
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11090.p1
N/A
M
ASD
ASD proband from SSC quad family 11090. SRS score of 83.
Full-scale IQ (FSIQ) score of 56.
23059461
24571977
1512517
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1006
53 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
22624794
24654160
2029367
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1928
73 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include delusions, hallucinations). Physical comorbidities: diabetes mellitus, asthma. Family history: positive for schizophrenia (SCZ).
IQ > 70
22638171
23320336
682166
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1006
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
22624793
24654160
2029368
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU312702
N/A
M
ASD
22705515
24615033
1909519
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11090.p1
NA
M
ASD
NA
NA
22632613
23172002
539390
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case24
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
22916059
23301036
384978
GRCh38
Deletion
Yes
panigrahi_24_ASD/DD/ID_discovery_cases-case23
2 yrs.
F
Developmental delay
Failure to thrive, global developmental delay, frontal bossing, cupped ears.
22655459
24645625
1990167
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-caseMM0177-3
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21328084
21984363
656280
Unknown
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0116-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22655333
24663664
2008332
GRCh38
Duplication
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
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON2813
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
22638170
24643362
2005193
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case31C
Unknown
BCR,ADORA2A,BCRP4,ASLP1,DDT,IGLV3-15,IGLV3-25,IGLV2-5,IGLV3-16,IGLV3-4,IGLV3-17,IGLJ6,IGLV3-22,IGLV3-10,IGLV3-12,IGLVI-20,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-24,IGLV2-18,IGLV3-13,IGLV3-6,IGLV3-29,IGLV2-23,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-26,IGLV3-27,IGLV3-2,IGLV3-19,IGLV2-14,IGLV3-21,IGLV3-9,IGLV2-28,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,IGLVVI-25-1,IGLVVI-22-1,GUCD1,GUSBP11,DERL3,GGTLC2,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,POM121L10P,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,POM121L1P,CABIN1,SPECC1L,FBXW4P1,GSTT4
akkus_24_ASD/DD/ID_discovery_cases-case44A
Unknown
BCR,ADORA2A,ASLP1,DDT,IGLV3-15,IGLV3-25,IGLV2-5,IGLV3-16,IGLV3-4,IGLV3-17,IGLJ6,IGLV3-22,IGLV3-10,IGLV3-12,IGLVI-20,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-24,IGLV2-18,IGLV3-13,IGLV3-6,IGLV3-29,IGLV2-23,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-26,IGLV3-27,IGLV3-2,IGLV3-19,IGLV2-14,IGLV3-21,IGLV3-9,IGLV2-28,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,IGLVVI-25-1,IGLVVI-22-1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,CHCHD10,BCRP1,CES5AP1,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SMARCB1,RN7SL263P,ZNF70,RAB36,CABIN1,SPECC1L,FBXW4P1,GSTT4
akter_23_ASD/ADHD/DD/ID_discovery_cases-case6
Unknown
BCR,ADORA2A,ASLP1,DDT,IGLV3-15,IGLV2-5,IGLV3-4,IGLJ6,IGLV3-10,IGLV3-12,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-13,IGLV3-6,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-2,IGLV2-14,IGLV3-9,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,CABIN1,SPECC1L,FBXW4P1,GSTT4
akter_24_ASD/ADHD/DD/ID_discovery_cases-case335
Unknown
BCR,ADORA2A,ASLP1,DDT,IGLV3-15,IGLV2-5,IGLV3-4,IGLJ6,IGLV3-10,IGLV3-12,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-13,IGLV3-6,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-2,IGLV2-14,IGLV3-9,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,CABIN1,SPECC1L,FBXW4P1,GSTT4
girirajan_13a_ASD_discovery_cases-AU004104
Unknown
Multiplex
Unknown
IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ZNF280B,LL22NC03-63E9.3,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,IGLV10-54,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,PRAMENP,RSPH14,CABIN1
guo_18_ASD/DD/ID_discovery_cases-caseBK-294-03
aCGH, Sanger sequencing
Maternal
Simplex
Unknown
BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000695
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001580
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001961
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002205
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002452
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002555
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002707
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003795
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004034
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004302
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
krumm_13_ASD_discovery_cases-case11090.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
kushima_18_SCZ_discovery_cases-caseSCZ1006
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
BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,RSPH14,CABIN1
kushima_18_SCZ_discovery_cases-caseSCZ1928
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
Not simplex
Unknown
GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
kushima_22_SCZ_discovery_cases-caseSCZ1006
qRT-PCR
Unknown
BCR,ADORA2A,BCRP4,ASLP1,DDT,IGLV3-15,IGLV3-25,IGLV2-5,IGLV3-16,IGLV3-4,IGLV3-17,IGLJ6,IGLV3-22,IGLV3-10,IGLV3-12,IGLVI-20,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-24,IGLV2-18,IGLV3-13,IGLV3-6,IGLV3-29,IGLV2-23,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-26,IGLV3-27,IGLV3-2,IGLV3-19,IGLV2-14,IGLV3-21,IGLV3-9,IGLV2-28,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,IGLVVI-25-1,IGLVVI-22-1,GUCD1,GUSBP11,DERL3,GGTLC2,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,POM121L1P,CABIN1,SPECC1L,FBXW4P1,GSTT4
leppa_16_ASD_discovery_cases-AU312702
Maternal
Multiplex
Not segregated (CNV not present in affected siblings)
IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
levy_11_ASD_discovery_cases-11090.p1
Maternal
Simplex
Segregated
BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,RSPH14
napoli_17_ASD_discovery_cases-case24
RT-PCR
Maternal
IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,GNAZ,RAB36,BCR,RSPH14
panigrahi_24_ASD/DD/ID_discovery_cases-case23
Unknown
BCR,ADORA2A,ASLP1,DDT,IGLV3-15,IGLV3-25,IGLV2-5,IGLV3-16,IGLV3-4,IGLV3-17,IGLJ6,IGLV3-22,IGLV3-10,IGLV3-12,IGLVI-20,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-24,IGLV2-18,IGLV3-13,IGLV3-6,IGLV3-29,IGLV2-23,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-26,IGLV3-27,IGLV3-2,IGLV3-19,IGLV2-14,IGLV3-21,IGLV3-9,IGLV2-28,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,IGLVVI-25-1,IGLVVI-22-1,GUCD1,GUSBP11,DERL3,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,CABIN1,SPECC1L,FBXW4P1,GSTT4
prasad_12_ASD_discovery_cases-caseMM0177-3
qPCR
Maternal
Unknown
Unknown
RAB36,FBXW4P1,RTDR1,GNAZ,MIR650,IGLL5,BCR
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0116-003
RT-qPCR or WGS
Unknown
IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,FAM230I,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,RSPH14,CABIN1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON2813
qRT-PCR
Unknown
BCR,ADORA2A,ASLP1,DDT,IGLV3-15,IGLV3-25,IGLV2-5,IGLV3-16,IGLV3-4,IGLV3-17,IGLJ6,IGLV3-22,IGLV3-10,IGLV3-12,IGLVI-20,IGLV3-1,IGLJ7,IGLV3-7,IGLV2-8,IGLV2-11,IGLV3-24,IGLV2-18,IGLV3-13,IGLV3-6,IGLV3-29,IGLV2-23,IGLJ4,RSPH14,IGLC7,IGLJ2,IGLJ5,IGLJ3,IGLJ1,IGLV3-26,IGLV3-27,IGLV3-2,IGLV3-19,IGLV2-14,IGLV3-21,IGLV3-9,IGLV2-28,IGLV4-3,POM121L9P,UPB1,DRICH1,VPREB3,SUSD2,SLC2A11,IGLVVI-25-1,IGLVVI-22-1,GUCD1,GUSBP11,DERL3,GGTLC2,ZDHHC8P1,C22orf15,IGLC5,IGLC3,GNAZ,IGLC2,IGLC1,GGT5,GGT1,IGLC6,GSTT2,IGLC4,IGLL1,MIF-AS1,RGL4,FAM230I,LRRC75B,CHCHD10,BCRP1,CES5AP1,BCRP3,ADORA2A-AS1,GSTT2B,MIR650,DDTL,GGTLC4P,MIF,MMP11,BCRP8,IGLL5,MIR5571,SPECC1L-ADORA2A,LINC01659,PCAT14,LINC02556,LINC02557,RN7SL268P,SNRPD3,SMARCB1,RN7SL263P,ZNF70,RAB36,POM121L1P,CABIN1,SPECC1L,FBXW4P1,GSTT4
No Animal Model Data Available