22q11.1-q11.21CNV Type: Duplication
Largest CNV size: 78000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
1714468
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
3578588
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
222487
0
1
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
3386173
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
4057919
2
6
8
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
1753835
0
2
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2839433
0
4
4
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
2080400
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
78000
0
1
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
1228705
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
1600000
0
1
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
4012017
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0448
N/A
N/A
Developmental delay
Global developmental delay with dysmorphic features, dental hypoplasia and mild right-sided facial asymmetry, hypotonia, joint hypermobility, short stature and bilateral talipes equinovarus (Velocardiofacial Syndrome). Consanguineous parents.
Global developmental delay
16889237
19097081
2207845
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case739
F
Developmental delay, interatrial communication, preauricular appendage, facial dysmorphism. Karyotype: 46,XX +mar.
Intellectual disability
16796512
20375099
3578588
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1482302
Autism
16080284
16302770
222487
Unknown
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D881
2 mos. 27 days
M
Developmental delay
Case presented with 22q11.1-q11.21 mosaic duplication (x34).
16408173
19794345
3386173
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000169
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16916608
21151128
4234521
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000862
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16916608
20324240
3407633
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001633
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16538125
20363937
3825813
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001922
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16367190
18167952
1800763
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002752
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16578056
18134332
1556277
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003935
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16916608
20345217
3428610
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005081
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16414871
18167952
1753082
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005348
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16916608
20324240
3407633
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case083
7 yrs.
F
Developmental delay
Global developmental delay, multiple stigmas
16408172
18162006
1753835
GRCh38
Triplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530633
F
Intellectual disability
Abnormal facial shape (HP:0001999), morphological central nervous system abnormality (HP:0002011)
Intellectual disability (HP:0001249).
15327662
18167094
2839433
GRCh38
Triplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530634
F
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
15327662
18167094
2839433
GRCh38
Triplication
No
miclea_22_DD/ID_discovery_cases-case3
12 yrs.
M
Developmental delay and intellectual disability
Global developmental delay
Intellectual disability
16916607
18997006
2080400
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case5301
NA
ASD
NA
NA
16219000
16297000
78000
Unknown
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case134
NA
M
Intellectual disability
Speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
16916607
18145311
1228705
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case60
F
DD/ID
Typical CAT-EYE syndrome
16578056
18179006
1600951
GRCh38
Duplication
No
verberne_22_ASD/DD/ID_discovery_cases-case84
NA
M
Intellectual disability
Hirsutim, ptosis, downslanted palpebral fissures, high forehead, uplifted earlobe
Intellectual disability
16367189
20379205
4012017
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0448
Unknown
Unknown
Unknown
IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,MICAL3
chaves_24_ASD/DD/ID_discovery_cases-case739
Unknown
BID,ATP6V1E1,ARVCF,COMT,TMEM121B,IGKV1OR22-5,CECR2,IGKV2OR22-4,TRMT2A,HSFY1P1,CECR3,HDHD5,ZDHHC8,ADA2,TUBA8,CECR9,PEX26,DGCR8,GNB1L,MICAL3,MRPL40,RTN4R,RTL10,SLC25A18,RIMBP3,DGCR6L,TANGO2,C22orf39,GAB4,LINC00895,XKR3,LINC00896,LINC00528,IGKV1OR22-1,GP1BB,IGKV3OR22-2,GGT3P,IGKV2OR22-3,GSC2,CLCP1,LINC02891,ZNF402P,VN1R9P,E2F6P1,USP41,CCDC188,FAM32BP,MIR185,CA15P2,FAM230E,GGTLC3,PI4KAP1,MIR648,FAM230A,TMEM191B,GGTLC5P,RHEBP3,FAM230J,SUSD2P2,CECR7,HDHD5-AS1,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,LINC01634,KRT18P62,MIR1306,MIR1286,DNAJA1P6,MIR3618,MIR3198-1,MIR4761,LINC01311,MTND1P17,LINC01664,CA15P1,GPM6BP3,FAM230D,ARL2BPP10,FAM230F,FAM230G,PRODH,SEPTIN5,RANBP1,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RN7SL843P,RN7SL168P,SNORA77B,CDC45,DGCR6,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,TXNRD2,USP18,DGCR11,DGCR5,BCL2L13,RPL32P5,IL17RA,TSSK1A,TSSK2
gai_11_ASD_discovery_cases-AU1482302
Inherited
CECR1, CECR2
han_22_ASD/DD/ID_discovery_cases-case15D881
De novo
BID,ATP6V1E1,TMEM121B,IGKV1OR22-5,KCNMB3P1,CECR2,IGKV2OR22-4,HSFY1P1,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,GNB1L,MICAL3,MRPL40,SLC25A18,RIMBP3,C22orf39,GAB4,LINC00895,CCT8L2,XKR3,LINC00528,IGKV1OR22-1,GP1BB,IGKV3OR22-2,GGT3P,IGKV2OR22-3,GSC2,FABP5P11,CLCP1,ZNF402P,VN1R9P,E2F6P1,TPTEP1,FAM32BP,CA15P2,FAM230E,ACTR3BP6,SLC9B1P4,GGTLC3,PI4KAP1,MIR648,FAM230A,TMEM191B,GGTLC5P,RHEBP3,FAM230J,SUSD2P2,CECR7,HDHD5-AS1,PABPC1P9,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,LINC01634,KRT18P62,DNAJA1P6,SLC25A15P5,MIR3198-1,LINC01311,MTND1P17,LINC01664,CA15P1,GPM6BP3,FAM230D,ARL2BPP10,FAM230F,PRODH,SEPTIN5,LINC01665,RN7SKP131,CHEK2P4,CLDN5,SLC25A1,TBX1,VWFP1,UFD1,HIRA,RN7SL843P,RN7SL168P,ANKRD62P1,PARP4P3,CDC45,DGCR6,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,USP18,DGCR11,DGCR5,BCL2L13,RPL32P5,IL17RA,ANKRD62P1-PARP4P3,TSSK1A,TSSK2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000169
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,MICAL3,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000862
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001633
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001922
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002752
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003935
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005081
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005348
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
leite_22_DD/ID_discovery_cases-case083
Unknown
BID,ATP6V1E1,TMEM121B,IGKV1OR22-5,KCNMB3P1,CECR2,IGKV2OR22-4,HSFY1P1,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,MICAL3,SLC25A18,GAB4,CCT8L2,XKR3,LINC00528,IGKV1OR22-1,IGKV3OR22-2,IGKV2OR22-3,FABP5P11,CLCP1,ZNF402P,VN1R9P,TPTEP1,FAM32BP,ACTR3BP6,SLC9B1P4,MIR648,RHEBP3,CECR7,HDHD5-AS1,PABPC1P9,LINC01634,DNAJA1P6,SLC25A15P5,MIR3198-1,MTND1P17,LINC01664,GPM6BP3,ARL2BPP10,LINC01665,CHEK2P4,VWFP1,RN7SL843P,ANKRD62P1,PARP4P3,USP18,BCL2L13,RPL32P5,IL17RA,ANKRD62P1-PARP4P3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530633
Unknown
BID,ATP6V1E1,TMEM121B,IGKV1OR22-5,ABCD1P4,KCNMB3P1,CECR2,IGKV2OR22-4,HSFY1P1,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,MICAL3,OR11H1,SLC25A18,GAB4,CCT8L2,XKR3,LINC00528,IGKV1OR22-1,IGKV3OR22-2,IGKV2OR22-3,FABP5P11,ARHGAP42P3,CLCP1,ZNF402P,VN1R9P,TPTEP1,FAM32BP,DUXAP8,ACTR3BP6,NF1P6,SLC9B1P4,MIR648,RHEBP3,TOMM40P2,CECR7,HDHD5-AS1,PABPC1P9,LINC01634,ZNF72P,NEK2P2,NBEAP3,BNIP3P2,DNAJA1P6,SLC25A15P5,MIR3198-1,POTEH-AS1,MTND1P17,MED15P7,LINC01664,GPM6BP3,ARL2BPP10,GRAMD4P2,LINC01665,PSLNR,CHEK2P4,VWFP1,BMS1P22,RNU6-816P,RN7SL843P,ANKRD62P1,PARP4P3,USP18,POTEH,BCL2L13,YME1L1P1,RPL32P5,IL17RA,ANKRD62P1-PARP4P3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530634
Unknown
BID,ATP6V1E1,TMEM121B,IGKV1OR22-5,ABCD1P4,KCNMB3P1,CECR2,IGKV2OR22-4,HSFY1P1,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,MICAL3,OR11H1,SLC25A18,GAB4,CCT8L2,XKR3,LINC00528,IGKV1OR22-1,IGKV3OR22-2,IGKV2OR22-3,FABP5P11,ARHGAP42P3,CLCP1,ZNF402P,VN1R9P,TPTEP1,FAM32BP,DUXAP8,ACTR3BP6,NF1P6,SLC9B1P4,MIR648,RHEBP3,TOMM40P2,CECR7,HDHD5-AS1,PABPC1P9,LINC01634,ZNF72P,NEK2P2,NBEAP3,BNIP3P2,DNAJA1P6,SLC25A15P5,MIR3198-1,POTEH-AS1,MTND1P17,MED15P7,LINC01664,GPM6BP3,ARL2BPP10,GRAMD4P2,LINC01665,PSLNR,CHEK2P4,VWFP1,BMS1P22,RNU6-816P,RN7SL843P,ANKRD62P1,PARP4P3,USP18,POTEH,BCL2L13,YME1L1P1,RPL32P5,IL17RA,ANKRD62P1-PARP4P3
miclea_22_DD/ID_discovery_cases-case3
Unknown
BID,ATP6V1E1,TMEM121B,CECR2,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,MICAL3,SLC25A18,RIMBP3,GAB4,LINC00528,IGKV1OR22-1,IGKV3OR22-2,GGT3P,IGKV2OR22-3,CLCP1,VN1R9P,E2F6P1,FAM32BP,CA15P2,FAM230E,GGTLC3,PI4KAP1,MIR648,FAM230A,TMEM191B,GGTLC5P,RHEBP3,FAM230J,SUSD2P2,CECR7,HDHD5-AS1,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,LINC01634,DNAJA1P6,MIR3198-1,LINC01664,FAM230D,ARL2BPP10,FAM230F,PRODH,RN7SKP131,RN7SL843P,DGCR6,FAM246B,FAM247B,USP18,DGCR5,BCL2L13,RPL32P5,IL17RA
morrow_08_ASD_discovery_cases-case5301
Maternal
NA
NA
5' end of SLC25A18
streata_22_ASD/DD/ID_discovery_cases-case134
CMA, karyotyping, and/or MLPA
De novo
BID,ATP6V1E1,TMEM121B,CECR2,CECR3,HDHD5,ADA2,TUBA8,CECR9,PEX26,MICAL3,SLC25A18,GAB4,LINC00528,IGKV1OR22-1,IGKV3OR22-2,IGKV2OR22-3,CLCP1,VN1R9P,FAM32BP,MIR648,RHEBP3,CECR7,HDHD5-AS1,LINC01634,DNAJA1P6,MIR3198-1,LINC01664,ARL2BPP10,RN7SL843P,BCL2L13,RPL32P5,IL17RA
tzetis_12_DD/ID_discovery_cases-case60
De novo
Unknown
CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
verberne_22_ASD/DD/ID_discovery_cases-case84
Unknown
BID,ATP6V1E1,ARVCF,COMT,TMEM121B,IGKV1OR22-5,ABCD1P4,KCNMB3P1,CECR2,IGKV2OR22-4,TRMT2A,HSFY1P1,CECR3,HDHD5,ZDHHC8,ADA2,TUBA8,CECR9,PEX26,DGCR8,GNB1L,MICAL3,MRPL40,RTN4R,RTL10,SLC25A18,RIMBP3,DGCR6L,TANGO2,C22orf39,GAB4,LINC00895,CCT8L2,XKR3,LINC00896,LINC00528,IGKV1OR22-1,GP1BB,IGKV3OR22-2,GGT3P,IGKV2OR22-3,GSC2,FABP5P11,CLCP1,LINC02891,ZNF402P,VN1R9P,E2F6P1,USP41,CCDC188,TPTEP1,FAM32BP,MIR185,CA15P2,FAM230E,ACTR3BP6,SLC9B1P4,GGTLC3,PI4KAP1,MIR648,FAM230A,TMEM191B,GGTLC5P,RHEBP3,FAM230J,SUSD2P2,CECR7,HDHD5-AS1,PABPC1P9,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,LINC01634,KRT18P62,MIR1306,MIR1286,DNAJA1P6,MIR3618,SLC25A15P5,MIR3198-1,MIR4761,LINC01311,MTND1P17,LINC01664,CA15P1,GPM6BP3,FAM230D,ARL2BPP10,FAM230F,FAM230G,PRODH,SEPTIN5,RANBP1,LINC01665,MIR6816,RN7SKP131,CHEK2P4,CLDN5,SLC25A1,TBX1,VWFP1,UFD1,HIRA,RN7SL843P,RN7SL168P,ANKRD62P1,PARP4P3,SNORA77B,CDC45,DGCR6,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,TXNRD2,USP18,DGCR11,DGCR5,BCL2L13,RPL32P5,IL17RA,ANKRD62P1-PARP4P3,TSSK1A,TSSK2
Controls
No Control Data Available
No Animal Model Data Available