10p15.3-p14CNV Type: Deletion-Duplication
Largest CNV size: 16515628 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
CNVs within this region were identified in multiple cases from two CNV reports (Kaminsky et al., 2011; Nguyen et al., 2013).
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...
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
12000000
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
8398391
0
3
3
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
16515628
4
5
9
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_306703
N/A
M
Developmental delay/intellectual disability
102266
12169672
12067407
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001060
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90421
8442783
8352363
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001085
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90421
6769994
6679574
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003943
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90421
7085100
6994680
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC12988
N/A
F
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features, Congenital Hypothyroidism
14062
12854859
12840798
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19869
N/A
F
MCA
Database: Signature. Indication for study: Multiple Congenital Anomalies
14062
12854859
12840798
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36818
N/A
F
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features
1418150
13041183
11623034
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41499
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, 46,XX,del(10)(p12)
Developmental delay
79603
15569529
15489927
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC47728
N/A
M
MCA
Database: Signature. Indication for study: Multiple Congenital Anomalies, karyotype: der(5)t(5;10) w/ ~16.5 Mb 5p del
92740
13247702
13154963
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC6174
N/A
M
MCA
Database: Signature. Indication for study: 46, XY add(6)(q27) Cystic Kidneys, Coarctation Aorta, Absent Corpus Callosum, karyotype: der(6)t(6;10) w/6q del
14062
12854859
12840798
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67316
N/A
F
Developmental delay and epilepsy
Database: Signature. Indication for study: Developmental Delay, Seizure Disorder, karyotype: der(2)t(2;10) w/ ~2Mb 2q del
Developmental delay
92740
16612309
16519570
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67545
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Mother with Balanced Translocation
Developmental delay
92740
12824808
12732069
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GM06936
N/A
F
Intellectual disability
Database: NIGMS. Indication for study: ID, dysmorphic features
Intellectual disability
14062
12836994
12822933
GRCh38
Deletion
N/A
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_306703
qPCR
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001060
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,IDI1,PITRM1,PITRM1-AS1,SFMBT2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001085
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,IDI1,PITRM1,PITRM1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003943
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,IDI1,PITRM1,PITRM1-AS1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC12988
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19869
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36818
FISH
Unknown
Unknown
Unknown
LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41499
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC47728
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC6174
FISH
Maternal (balanced)
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67316
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,RSU1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67545
FISH
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GM06936
De novo
Unknown
Possibly segregated
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D
Controls
No Control Data Available
No Animal Model Data Available