15q11.1-q13.3CNV Type: Duplication
Largest CNV size: 11870000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bui_24_ASD_discovery_cases
Vietnamese ASD probands from trio families who were diagnosed at Vinmec International Hospital from January 1st, 2017 to 31st December 31st, 2018 who were screened from de novo copy number variants.
100
Cases were diagnosed with autism spectrum disorder by Diagnostic and Statistical Manual of Mental Disorders (DSM) version 4 or 5, Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS).
Range, 3-18 yrs. (average, 6.91 yrs.)
83.00% Male
12255764
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
12526074
0
2
2
ohashi_21_ASD_discovery_cases
Patients diagnosed with ASD recruited from August 2015 to December 2017 in Nagoya City University Hospital (Nagoya, Japan)
48
Cases diagnosed with ASD according to DSM-5 criteria and evaluated using CARS-Tokyo version
Median age at time of genetic analysis, 9.8 years (IQR 6.0-12.9)
60.41% Male
12249456
0
1
1
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
11870000
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
11858532
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bui_24_ASD_discovery_cases
Vietnam
aCGH
Agilent SurePrint G3
ADM-2
Agilent Feature Extraction Software v.11.5.1.1
qPCR
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
ohashi_21_ASD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 4x160K
Agilent CytoGenomics
WES
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
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
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bui_24_ASD_discovery_cases-caseASD097
13 yrs.
M
ASD
Birth/neonatal history: normal pregnancy and delivery. Developmental milestones: significant developmental delay, delayed ability to walk (walked unsupported at 2 years). Language and communication evaluation: lack of expressive speech, produces inarticulate sounds. Behavioral/psychiatric evaluation: diagnosed with autism (ICD-10 F84.0, DSM level 3, ADOS 22/12, CARS 52), social interaction disorders, repetitive behavior, hyperactivity. Family history: normal family history.
Diagnosed with intellectual disability (ICD-10 F70)
19897288
32153051
12255764
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case148
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
19866419
32222140
12355722
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case153
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
19801853
32327926
12526074
GRCh38
Duplication
No
ohashi_21_ASD_discovery_cases-caseASD-050
NA
F
ASD
Case diagnosed with ASD according to DSM-5 criteria
19897287
32146742
12249456
GRCh38
Duplication
Yes
shen_10_ASD_discovery_cases-ASD-09-056
NA
M
ASD
NA
NA
19897288
32153051
12255764
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case187
NA
M
Developmental delay and intellectual disability
Global developmental delay, facial dysmorphism.
Mild/moderate intellectual disability
20480949
32339480
11858532
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bui_24_ASD_discovery_cases-caseASD097
qPCR
De novo
APBA2,CHRNA7,NBEAP1,IGHD3OR15-3B,OR4H6P,IGHD1OR15-1A,IGHV3OR15-7,IGHD4OR15-4B,IGHV4OR15-8,IGHD2OR15-2B,IGHD2OR15-2A,IGHD4OR15-4A,IGHV1OR15-6,IGHD5OR15-5A,IGHD3OR15-3A,IGHD1OR15-1B,IGHD5OR15-5B,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,OR11J2P,NIPA2,OR4Q1P,OR11H3P,OR11K1P,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,OR4N4,SYNGR2P1,HERC2P3,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,RPS8P10,LINC01193,IGHV1OR15-1,SNORD64,OR4N3P,OR4M2,HERC2P2,HERC2P10,GOLGA8EP,IGHV1OR15-9,WHAMMP2,OR11J5P,NF1P2,MIR211,GOLGA6L22,HERC2P9,BMS1P15,LINC00929,CXADRP2,SPATA31E3P,SPATA31E2P,PDCD6IPP2,IGHV1OR15-4,RHPN2P1,RPL5P1,IGHV1OR15-3,CHEK2P2,SLC20A1P3,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,LINC02203,HMGN2P5,ABCB10P3,FAM30C,BMS1P16,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,GOLGA6L6,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,GOLGA8CP,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,HERC2P7,IGHV1OR15-2,ZNF519P3,POTEB2,OR11J7P,ULK4P2,RPL5P32,ZNF519P2,OR11J6P,DMAC1P1,MIR1268A,NBEAP4,NF1P1,LONRF2P4,NCAPGP2,LONRF2P3,MIR3118-2,MIR3118-3,MIR3118-4,MIR4508,MIR4509-1,BCAR1P2,MIR4509-2,BCAR1P1,GOLGA8UP,MIR4509-3,GRAMD4P6,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR5701-2,GRAMD4P5,MIR5701-1,MIR4715,HERC2P11,SNORD115-46,POTEB,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,NF1P9,SERPINE4P,POTEB3,SNHG14,LINC02352,MIR5701-3,OR4N4C,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,OR4H6BP,RN7SL495P,RN7SL196P,RN7SL106P,FAM30B,TJP1,UBE3A,SNRPN,RN7SL759P,RNU6-631P,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RNU6-749P,RN7SL238P,RN7SL719P,RNU6-1235P,RN7SL400P,RN7SL673P,RNU6-498P,RN7SL82P,RN7SL584P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
mahjani_21_ASD_discovery_cases-case148
Unknown
NBEAP1,APBA2,CHRNA7,IGHV4OR15-8,OR4H6P,IGHD2OR15-2A,IGHD3OR15-3B,IGHD3OR15-3A,IGHD5OR15-5A,IGHD4OR15-4B,IGHD2OR15-2B,IGHD1OR15-1B,IGHD4OR15-4A,IGHD5OR15-5B,IGHV1OR15-6,IGHV3OR15-7,IGHD1OR15-1A,KLF13,MTMR10,MAGEL2,NSMCE3,ABCB10P1,ATP10A,OR4Q1P,NIPA2,OR11K1P,OR11H3P,OR11J2P,SNORD107,ULK4P3,CHRFAM7A,ARHGAP11B,TUBGCP5,NIPA1,PWAR1,OTUD7A,GABRG3,GABRA5,GABRB3,UBE2CP4,GOLGA6L1,GOLGA6L2,GOLGA8G,GOLGA8IP,HERC2P3,OR4N4,SYNGR2P1,SNORD108,SNORD109A,SNORD109B,WHAMMP3,SNORD115-1,SNORD64,IGHV1OR15-1,RPS8P10,LINC01193,IGHV1OR15-9,GOLGA8EP,HERC2P10,HERC2P2,OR4N3P,OR4M2,WHAMMP2,OR11J5P,GOLGA6L22,HERC2P9,NF1P2,MIR211,BMS1P15,LINC00929,RPL5P1,SLC20A1P3,IGHV1OR15-3,CHEK2P2,RHPN2P1,CXADRP2,PDCD6IPP2,SPATA31E3P,SPATA31E2P,IGHV1OR15-4,GOLGA8M,GOLGA6L6,GOLGA8S,GOLGA8H,GOLGA8T,HMGN2P5,DNM1P30,GOLGA6L7,BMS1P16,GOLGA8Q,ABCB10P3,SNORD116-19,GOLGA8J,LINC02203,FAM30C,SNORD115-45,SNORD115-18,SNORD115-17,SNORD116-7,SNORD116-20,SNORD116-2,SNORD115-7,SNORD116-13,SNORD115-29,SNORD115-24,SNORD116-16,SNORD115-31,SNORD116-24,SNORD115-3,SNORD115-14,SNORD115-44,SNORD116-3,SNORD115-23,SNORD115-35,SNORD116-10,SNORD115-16,SNORD115-19,SNORD115-34,SNORD116-12,SNORD115-12,GOLGA8CP,SNORD116-23,SNORD115-8,SNORD115-43,SNORD116-21,SNORD115-39,SNORD115-28,SNORD116-11,SNORD116-9,SNORD115-21,SNORD115-32,SNORD116-18,SNORD116-29,SNORD115-33,SNORD116-27,SNORD116-25,SNORD115-6,SNORD116-6,SNORD116-5,SNORD116-28,SNORD115-41,ELMO2P1,SNORD115-9,SNORD115-2,SNORD115-38,SNORD115-42,SNORD116-1,SNORD115-10,SNORD116-15,SNORD115-37,SNORD115-36,SNORD115-22,PWRN1,SNORD116-14,SNORD115-5,SNORD116-17,SNORD115-26,SNORD115-25,SNORD115-11,SNORD115-47,SNORD116-4,PWRN2,DEPDC1P1,SNORD115-4,SNORD115-30,SNORD115-48,SNORD116-8,SNORD116-26,SNORD116-22,SNORD115-40,SNORD115-13,SNORD115-27,SNORD115-20,SNORD115-15,LINC02346,TVP23BP1,NDN,OCA2,TRPM1,GOLGA8DP,DNM1P28,HERC2P7,GOLGA8F,ABCB10P4,OR11J7P,ULK4P2,DMAC1P1,ZNF519P2,RPL5P32,ZNF519P3,IGHV1OR15-2,POTEB2,OR11J6P,NBEAP4,MIR1268A,NF1P1,LONRF2P3,NCAPGP2,LONRF2P4,MIR3118-4,MIR3118-2,MIR3118-3,MIR4508,GOLGA8UP,BCAR1P1,MIR4509-2,MIR4509-1,BCAR1P2,MIR4509-3,PDCD6IPP1,MIR5701-2,MIR4715,MIR5701-1,GRAMD4P6,GRAMD4P5,RNA5SP391,RNA5SP390,SNORD116-30,SNORD115-46,POTEB,HERC2P11,TUBBP8,GOLGA8R,DNM1P50,GABRG3-AS1,NF1P9,SERPINE4P,OR4N4C,SNHG14,LINC02352,POTEB3,MIR5701-3,ARHGAP11B-DT,OR4H6BP,ATP10A-DT,PWRN4,LINC02250,RN7SL106P,RN7SL196P,FAM30B,RN7SL495P,TJP1,SNRPN,UBE3A,RN7SL628P,RN7SL759P,RNU6-631P,RNU6-741P,RNU6-978P,RN7SL400P,RNU6-498P,RN7SL673P,RN7SL238P,RNU6-1235P,RN7SL719P,RNU6-749P,RNU6-17P,RN7SL469P,RN7SL536P,RN7SL584P,RN7SL82P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,HERC2,HERC2P6,PWAR5,HERC2P1,SNURF,MKRN3,OR11K1BP,OR4M2B,OR1Q1BP,OR4N3BP,LINC02249,CYFIP1,NPAP1,FAN1,FAM189A1,RPL41P2
mahjani_21_ASD_discovery_cases-case153
Unknown
NBEAP1,APBA2,CHRNA7,IGHV4OR15-8,OR4H6P,IGHD2OR15-2A,IGHD3OR15-3B,IGHD3OR15-3A,IGHD5OR15-5A,IGHD4OR15-4B,IGHD2OR15-2B,IGHD1OR15-1B,IGHD4OR15-4A,IGHD5OR15-5B,IGHV1OR15-6,IGHV3OR15-7,IGHD1OR15-1A,KLF13,MTMR10,MAGEL2,NSMCE3,ABCB10P1,ATP10A,OR4Q1P,NIPA2,OR11K1P,OR11H3P,OR11J2P,SNORD107,ULK4P3,CHRFAM7A,ARHGAP11B,TUBGCP5,NIPA1,PWAR1,OTUD7A,GABRG3,GABRA5,GABRB3,UBE2CP4,GOLGA6L1,GOLGA6L2,GOLGA8G,GOLGA8IP,HERC2P3,OR4N4,SYNGR2P1,SNORD108,SNORD109A,SNORD109B,WHAMMP3,SNORD115-1,SNORD64,IGHV1OR15-1,RPS8P10,LINC01193,IGHV1OR15-9,GOLGA8EP,HERC2P10,HERC2P2,OR4N3P,OR4M2,WHAMMP2,OR11J5P,GOLGA6L22,HERC2P9,NF1P2,MIR211,BMS1P15,LINC00929,RPL5P1,SLC20A1P3,IGHV1OR15-3,CHEK2P2,RHPN2P1,CXADRP2,PDCD6IPP2,SPATA31E3P,SPATA31E2P,IGHV1OR15-4,GOLGA8M,GOLGA6L6,GOLGA8S,GOLGA8H,GOLGA8T,HMGN2P5,DNM1P30,GOLGA6L7,BMS1P16,GOLGA8Q,ABCB10P3,SNORD116-19,GOLGA8J,LINC02203,FAM30C,SNORD115-45,SNORD115-18,SNORD115-17,SNORD116-7,SNORD116-20,SNORD116-2,SNORD115-7,SNORD116-13,SNORD115-29,SNORD115-24,SNORD116-16,SNORD115-31,SNORD116-24,SNORD115-3,SNORD115-14,SNORD115-44,SNORD116-3,SNORD115-23,SNORD115-35,SNORD116-10,SNORD115-16,SNORD115-19,SNORD115-34,SNORD116-12,SNORD115-12,GOLGA8CP,SNORD116-23,SNORD115-8,SNORD115-43,SNORD116-21,SNORD115-39,SNORD115-28,SNORD116-11,SNORD116-9,SNORD115-21,SNORD115-32,SNORD116-18,SNORD116-29,SNORD115-33,SNORD116-27,SNORD116-25,SNORD115-6,SNORD116-6,SNORD116-5,SNORD116-28,SNORD115-41,ELMO2P1,SNORD115-9,SNORD115-2,SNORD115-38,SNORD115-42,SNORD116-1,SNORD115-10,SNORD116-15,SNORD115-37,SNORD115-36,SNORD115-22,PWRN1,SNORD116-14,SNORD115-5,SNORD116-17,SNORD115-26,SNORD115-25,SNORD115-11,SNORD115-47,SNORD116-4,PWRN2,DEPDC1P1,SNORD115-4,SNORD115-30,SNORD115-48,SNORD116-8,SNORD116-26,SNORD116-22,SNORD115-40,SNORD115-13,SNORD115-27,SNORD115-20,SNORD115-15,LINC02346,TVP23BP1,NDN,OCA2,TRPM1,GOLGA8DP,DNM1P28,HERC2P7,GOLGA8F,ABCB10P4,OR11J7P,ULK4P2,DMAC1P1,ZNF519P2,RPL5P32,ZNF519P3,IGHV1OR15-2,POTEB2,OR11J6P,NBEAP4,MIR1268A,NF1P1,LONRF2P3,NCAPGP2,LONRF2P4,MIR3118-4,MIR3118-2,MIR3118-3,MIR4508,GOLGA8UP,BCAR1P1,MIR4509-2,MIR4509-1,BCAR1P2,MIR4509-3,PDCD6IPP1,MIR5701-2,MIR4715,MIR5701-1,GRAMD4P6,GRAMD4P5,RNA5SP391,RNA5SP390,SNORD116-30,SNORD115-46,POTEB,HERC2P11,TUBBP8,GOLGA8R,DNM1P50,GABRG3-AS1,NF1P9,SERPINE4P,OR4N4C,SNHG14,LINC02352,POTEB3,MIR5701-3,ARHGAP11B-DT,OR4H6BP,ATP10A-DT,PWRN4,LINC02250,RN7SL106P,RNU6-18P,RN7SL196P,FAM30B,RN7SL495P,TJP1,SNRPN,UBE3A,RN7SL628P,RN7SL759P,RNU6-631P,RNU6-741P,RNU6-978P,RN7SL400P,RNU6-498P,RN7SL673P,RN7SL238P,RNU6-1235P,RN7SL719P,RNU6-749P,RNU6-17P,RN7SL469P,RN7SL536P,RN7SL584P,RN7SL82P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,HERC2,HERC2P6,PWAR5,HERC2P1,SNURF,MKRN3,OR11K1BP,OR4M2B,OR1Q1BP,OR4N3BP,LINC02249,CYFIP1,NPAP1,FAN1,FAM189A1,RPL41P2
ohashi_21_ASD_discovery_cases-caseASD-050
WES
De novo
NBEAP1,APBA2,CHRNA7,OR4H6P,IGHD3OR15-3A,IGHD2OR15-2A,IGHV3OR15-7,IGHD5OR15-5B,IGHD1OR15-1B,IGHD4OR15-4B,IGHV4OR15-8,IGHV1OR15-6,IGHD5OR15-5A,IGHD2OR15-2B,IGHD3OR15-3B,IGHD1OR15-1A,IGHD4OR15-4A,KLF13,MAGEL2,MTMR10,ABCB10P1,ATP10A,NSMCE3,OR11H3P,OR11K1P,OR4Q1P,NIPA2,OR11J2P,ULK4P3,ARHGAP11B,CHRFAM7A,SNORD107,TUBGCP5,NIPA1,PWAR1,OTUD7A,GABRG3,GABRB3,GABRA5,HERC2P3,OR4N4,GOLGA8G,GOLGA6L2,SYNGR2P1,GOLGA8IP,UBE2CP4,GOLGA6L1,WHAMMP3,SNORD109A,SNORD115-1,SNORD108,SNORD109B,IGHV1OR15-1,RPS8P10,LINC01193,SNORD64,OR4M2,HERC2P10,OR4N3P,IGHV1OR15-9,GOLGA8EP,HERC2P2,NF1P2,MIR211,OR11J5P,WHAMMP2,HERC2P9,GOLGA6L22,BMS1P15,LINC00929,CXADRP2,RPL5P1,SPATA31E3P,SPATA31E2P,RHPN2P1,CHEK2P2,PDCD6IPP2,IGHV1OR15-3,IGHV1OR15-4,SLC20A1P3,FAM30C,BMS1P16,LINC02203,SNORD116-19,GOLGA8Q,GOLGA6L6,GOLGA8H,GOLGA8M,GOLGA6L7,ABCB10P3,HMGN2P5,DNM1P30,GOLGA8J,GOLGA8T,GOLGA8S,SNORD115-28,SNORD116-3,SNORD115-6,SNORD116-8,SNORD115-26,SNORD116-16,GOLGA8CP,SNORD115-21,SNORD115-19,SNORD116-7,SNORD115-23,SNORD115-22,SNORD116-13,SNORD115-11,SNORD115-15,SNORD116-12,SNORD115-41,SNORD115-29,SNORD116-18,SNORD115-45,SNORD115-32,SNORD116-5,SNORD115-35,SNORD115-44,SNORD116-26,SNORD116-23,SNORD116-27,SNORD115-36,SNORD116-4,SNORD116-15,SNORD115-33,SNORD116-20,SNORD115-25,SNORD116-2,SNORD115-43,SNORD115-13,SNORD116-9,SNORD116-14,DEPDC1P1,SNORD115-17,SNORD115-4,SNORD115-5,SNORD115-2,SNORD116-28,SNORD115-24,SNORD115-9,SNORD115-31,SNORD115-16,SNORD115-27,SNORD115-20,SNORD115-12,SNORD115-38,SNORD115-39,SNORD115-10,ELMO2P1,SNORD116-25,SNORD116-22,SNORD115-48,PWRN1,SNORD116-1,SNORD116-10,SNORD115-37,SNORD116-29,SNORD116-6,SNORD116-11,SNORD115-3,SNORD115-42,SNORD115-47,SNORD115-18,SNORD115-34,SNORD115-14,SNORD115-7,SNORD115-8,PWRN2,SNORD115-30,SNORD116-24,SNORD116-21,SNORD115-40,SNORD116-17,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,DNM1P28,HERC2P7,GOLGA8F,ABCB10P4,GOLGA8DP,RPL5P32,DMAC1P1,IGHV1OR15-2,ZNF519P2,OR11J7P,ZNF519P3,ULK4P2,OR11J6P,POTEB2,MIR1268A,NF1P1,NBEAP4,LONRF2P3,LONRF2P4,NCAPGP2,MIR3118-3,MIR3118-4,MIR3118-2,MIR4509-1,MIR4509-3,BCAR1P1,MIR4509-2,BCAR1P2,GOLGA8UP,MIR4508,MIR5701-1,GRAMD4P5,RNA5SP391,PDCD6IPP1,MIR5701-2,GRAMD4P6,RNA5SP390,MIR4715,SNORD115-46,POTEB,SNORD116-30,GOLGA8R,DNM1P50,TUBBP8,HERC2P11,GABRG3-AS1,SERPINE4P,NF1P9,POTEB3,SNHG14,OR4N4C,MIR5701-3,LINC02352,PWRN4,OR4H6BP,LINC02250,RN7SL196P,FAM30B,RN7SL106P,UBE3A,SNRPN,TJP1,RNU6-741P,RN7SL495P,RN7SL759P,RN7SL628P,RNU6-631P,RN7SL536P,RNU6-498P,RN7SL469P,RN7SL584P,RN7SL719P,RN7SL238P,RNU6-17P,RN7SL400P,RNU6-1235P,RN7SL82P,RN7SL673P,RNU6-749P,RNU6-466P,RN7SL545P,RN7SL796P,LINC02248,SNURF,MKRN3,HERC2P1,HERC2,HERC2P6,PWAR5,OR4N3BP,OR11K1BP,OR4M2B,OR1Q1BP,FAM189A1,FAN1,RPL41P2,LINC02249,NPAP1,CYFIP1
shen_10_ASD_discovery_cases-ASD-09-056
Unknown
NA
NA
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
streata_22_ASD/DD/ID_discovery_cases-case187
CMA, karyotyping, and/or MLPA
De novo
APBA2,CHRNA7,NBEAP1,IGHD3OR15-3B,OR4H6P,IGHD4OR15-4B,IGHV4OR15-8,IGHD2OR15-2B,IGHV1OR15-6,IGHD1OR15-1B,IGHD5OR15-5B,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,OR11J2P,NIPA2,OR4Q1P,OR11H3P,OR11K1P,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,OR4N4,SYNGR2P1,HERC2P3,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,RPS8P10,LINC01193,IGHV1OR15-1,SNORD64,OR4N3P,OR4M2,HERC2P2,HERC2P10,GOLGA8EP,WHAMMP2,OR11J5P,NF1P2,MIR211,GOLGA6L22,HERC2P9,LINC00929,CXADRP2,SPATA31E3P,SPATA31E2P,PDCD6IPP2,IGHV1OR15-4,RPL5P1,IGHV1OR15-3,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,LINC02203,HMGN2P5,ABCB10P3,FAM30C,BMS1P16,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,GOLGA6L6,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,GOLGA8CP,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,HERC2P7,ZNF519P3,POTEB2,OR11J7P,ULK4P2,RPL5P32,ZNF519P2,OR11J6P,DMAC1P1,MIR1268A,NBEAP4,NF1P1,LONRF2P4,NCAPGP2,LONRF2P3,MIR3118-2,MIR3118-3,MIR3118-4,MIR4508,MIR4509-1,BCAR1P2,MIR4509-2,GOLGA8UP,MIR4509-3,GRAMD4P6,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR5701-2,GRAMD4P5,MIR5701-1,MIR4715,HERC2P11,SNORD115-46,POTEB,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,NF1P9,SERPINE4P,POTEB3,SNHG14,LINC02352,MIR5701-3,OR4N4C,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,OR4H6BP,RN7SL495P,RN7SL196P,RNU6-18P,RN7SL106P,TJP1,UBE3A,SNRPN,RN7SL759P,RNU6-631P,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RNU6-749P,RN7SL238P,RN7SL719P,RNU6-1235P,RN7SL400P,RN7SL673P,RNU6-498P,RN7SL82P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
Controls
No Control Data Available
No Animal Model Data Available