13q33.1-q34CNV Type: Deletion
Largest CNV size: 13600000 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
7570298
1
0
1
chen_22_DD/ID_discovery_cases
Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
69
Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
Average age at diagnosis, 19 mos.
50.725% Male
13124914
1
0
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
13123353
2
0
2
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
11005115
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
13469336
5
0
5
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)
13600000
1
0
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chen_22_DD/ID_discovery_cases
China
WGS
Illumina NovaSeq 6000
NA
Chigene
None
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case9
N/A
M
Developmental delay
Developmental delay, learning difficulties, facial dysmorphism, low weight, microcephaly and motor difficulties
Learning difficulties
104130160
111700457
7570298
GRCh38
Deletion
No
chen_22_DD/ID_discovery_cases-case34
36 mos.
M
Developmental delay and intellectual disability
Gesell scores: 60-77-74-100-37. Clinical profile: speech and language retardation, motor retardation, facial abnormalities, thumb hypoplasia, and social interaction disorder.
Intellectual disability.
101219490
114344403
13124914
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001172
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101537045
114327173
12790129
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102114025
114327173
12213149
GRCh38
Deletion
Yes
mahjani_21_ASD_discovery_cases-case240
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
103332940
114338054
11005115
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
N/A
F
Dysmorphic features
Database: DECIPHER. Indication for study: Anaemia, broad base to nose, clinodactyly, hypertelorism, long philtrum, lung hypoplasia/agenesis, nuchal bleb/cystic hygroma of neck, pleural effusion/chylothorax, thin upper lip
103697173
114327101
10629929
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-DGDP067A
N/A
F
Developmental delay and MCA
Database: DGDP. Indication for study: Mixed receptive-expressive language delay, torticollis, multiple congenital anomalies, microcephaly, dysmorphic features.
Developmental delay
103921598
114344403
10422806
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC30806
N/A
M
DD/ID/MCA
Database: Signature. Indication for study: Not Specified. Karyotype: der(13)t(13;20) w/~9Mb 20p gain
103839293
114344403
10505111
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36693
N/A
F
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features, ring 13 chromosome
103701496
114312466
10610971
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40762
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, 46,XX,der (13)t(2;13)(p25.1;q32) w/~5Mb 2p gain
Developmental delay
101049614
114344403
13294790
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case77
F
ASD
Cranio-fronto-nasal-dysplasia, heart defects, camptodactyly, hypoplastic nails, ASD
101060086
114330991
13270906
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case9
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,DAOA-AS1,DAOA,LINC00460,EFNB2,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,LINC00343,ARGLU1,LINC00551,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,ARHGEF7,MYO16
chen_22_DD/ID_discovery_cases-case34
De novo
PARP1P1,ATP4B,COL4A1,EFNB2,F10,ERCC5,F7,COL4A2,FGF14,ARGLU1,NAXD,DCUN1D2,ANKRD10,BIVM,TMCO3,RAB20,PCID2,UPF3A,POGLUT2,GRTP1,CARS2,TEX30,ABHD13,TEX29,SPACA7,METTL21EP,ADPRHL1,PPIAP24,LINC00343,METTL21C,ING1,GAS6,CHAMP1,FGF14-IT1,LINC00567,DAOA-AS1,FGF14-AS2,PRECSIT,LINC00551,DAOA,NALCN,TMEM255B,ATP11AUN,ATP5MC1P5,CCDC168,LINC00452,RPL21P107,LINC00460,GAS6-AS1,NALF1,CLCP2,COL4A2-AS2,LINC00552,LAMP1,LIG4,LIPT1P1,RPL7P45,MCF2L-AS1,RPL39P29,LDHBP1,MIR1267,KARS1P2,HCFC2P1,HMGB3P7,SOX1-OT,ANKRD10-IT1,GAS6-DT,MIR4502,BIVM-ERCC5,MIR2681,MIR4705,C13orf46,RNA5SP38,LINC00555,LINC00565,MIR548AR,RNA5SP39,RNY1P2,ARHGEF7-IT1,RASA3-IT1,MYO16-AS1,MYO16-AS2,LINC00454,RNU1-16P,RN7SKP10,ARHGEF7-AS1,RPL35P9,LINC00404,LINC00443,DCUN1D2-AS,FGF14-AS1,NALF1-IT1,ATP6V1G1P7,COL4A2-AS1,GRTP1-AS1,ATP11A-AS1,ARHGEF7-AS2,RNU1-24P,LINC00676,LINC00368,GRK1,LINC01043,CFAP97D2,LINC00354,LINC01070,MIR8075,MIR8073,LINC00431,LINC00399,LINC01309,LINC01044,LINC00396,LINC01054,F10-AS1,LINC00370,LINC02337,SLC10A2,SOX1,TFDP1,TPP2,RN7SL783P,LINC01067,SNORD31B,CDC16,PROZ,CUL4A,ARHGEF7,IRS2,ITGBL1,TNFSF13B,RASA3,TUBGCP3,MYO16,MCF2L,ATP11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001172
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
mahjani_21_ASD_discovery_cases-case240
Unknown
PARP1P1,ATP4B,F7,EFNB2,COL4A1,F10,COL4A2,RAB20,ARGLU1,DCUN1D2,TMCO3,ANKRD10,NAXD,PCID2,UPF3A,CARS2,GRTP1,ABHD13,ADPRHL1,SPACA7,TEX29,PPIAP24,LINC00343,GAS6,ING1,DAOA,DAOA-AS1,PRECSIT,LINC00551,CHAMP1,LINC00567,TMEM255B,ATP5MC1P5,ATP11AUN,LINC00452,RPL21P107,LINC00460,NALF1,GAS6-AS1,CLCP2,LINC00552,COL4A2-AS2,LAMP1,LIG4,LDHBP1,RPL7P45,MCF2L-AS1,MIR1267,KARS1P2,HCFC2P1,ANKRD10-IT1,SOX1-OT,C13orf46,MIR4502,GAS6-DT,LINC00565,RNA5SP39,MIR548AR,RNA5SP38,GRTP1-AS1,ATP11A-AS1,ARHGEF7-AS2,DCUN1D2-AS,NALF1-IT1,COL4A2-AS1,ATP6V1G1P7,ARHGEF7-AS1,RPL35P9,LINC00404,LINC00443,ARHGEF7-IT1,RASA3-IT1,MYO16-AS1,MYO16-AS2,RNU1-16P,RN7SKP10,LINC00454,LINC00676,LINC00368,GRK1,LINC00354,LINC01043,CFAP97D2,LINC01070,MIR8075,MIR8073,LINC00431,LINC01309,F10-AS1,LINC00399,LINC01054,LINC01044,LINC00396,LINC00370,LINC02337,SOX1,TFDP1,RN7SL783P,LINC01067,SNORD31B,ARHGEF7,CUL4A,CDC16,PROZ,IRS2,TNFSF13B,RASA3,TUBGCP3,MYO16,ATP11A,MCF2L
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-DGDP067A
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC30806
FISH
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36693
FISH
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40762
FISH
Maternal (balanced carrier)
Unknown
Unknown
RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
tzetis_12_DD/ID_discovery_cases-case77
Unknown
Unknown
RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
Controls
No Control Data Available
No Animal Model Data Available