Copy Number Variants / 13q12.11-q34

13q12.11-q34

Type
Duplication
Average Length
95231802
Range
18454945-114109838
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
2
Populations
2 (2 case / 0 control)
Individuals
4 (4 case / 0 control)
Summary

Mosaic duplication identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)

Reports related to 13q12.11-q34 (2 Reports)
# Type Title Author, Year
1 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
2 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
Show all Case Details Show all Cohort Details

13q12.11-q34

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 95669883

Deletion: 0
Duplication: 3

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11-q34

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 95654893

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

girirajan_12_ASD/DD/ID_discovery_cases-case38091

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18454945
CNV End: 114109838
CNV Size: 95654893
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: TUBA3C, TPTE2, MPHOSPH8, PSPC1, ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9, SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9B-AS1, C1QTNF9B, SPATA13, C1QTNF9, PARP4, ATP12A, RNF17, CENPJ, PABPC3, FAM123A, MTMR6, NUPL1, ATP8A2, SHISA2, RNF6, CDK8, WASF3, GPR12, USP12, RPL21, RASL11A, GTF3A, MTIF3, LNX2, POLR1D, GSX1, PDX1, CDX2, PRHOXNB, FLT3, PAN3, FLT1, POMP, SLC46A3, MTUS2, SLC7A1, UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3, NBEA, MAB21L1, DCLK1, SOHLH2, CCDC169-SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, FAM48A, CSNK1A1L, POSTN, TRPC4, UFM1, FREM2, STOML3, PROSER1, NHLRC3, LHFP, COG6, FOXO1, MRPS31, SLC25A15, ELF1, WBP4, KBTBD6, KBTBD7, MTRF1, NAA16, RGCC, VWA8, DGKH, AKAP11, TNFSF11, FAM216B, EPSTI1, DNAJC15, ENOX1, CCDC122, LACC1, SERP2, TSC22D1, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1, ESD, HTR2A, SUCLA2, NUDT15, MED4, ITM2B, RB1, LPAR6, RCBTB2, CYSLTR2, FNDC3A, MLNR, CDADC1, CAB39L, SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7, RNASEH2B, FAM124A, SERPINE3, INTS6, WDFY2, DHRS12, CCDC70, ATP7B, ALG11, UTP14C, NEK5, NEK3, THSD1, VPS36, CKAP2, HNRNPA1L2, SUGT1, LECT1, PCDH8, OLFM4, PRR20A, PRR20B, PRR20E, PRR20D, PRR20C, PCDH17, DIAPH3, TDRD3, PCDH20, PCDH9, KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2, SLITRK1, SLITRK6, SLITRK5, GPC5, GPC6, DCT, TGDS, GPR180, SOX21, ABCC4, CLDN10, DZIP1, DNAJC3, UGGT2, HS6ST3, OXGR1, MBNL2, RAP2A, IPO5, FARP1, RNF113B, STK24, SLC15A1, DOCK9, UBAC2, GPR18, GPR183, TM9SF2, CLYBL, ZIC5, ZIC2, PCCA, GGACT, TMTC4, NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002049

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18418322
CNV End: 114088205
CNV Size: 95669883
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: TUBA3C, TPTE2, MPHOSPH8, PSPC1, ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9, SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9B-AS1, C1QTNF9B, SPATA13, C1QTNF9, PARP4, ATP12A, RNF17, CENPJ, PABPC3, FAM123A, MTMR6, NUPL1, ATP8A2, SHISA2, RNF6, CDK8, WASF3, GPR12, USP12, RPL21, RASL11A, GTF3A, MTIF3, LNX2, POLR1D, GSX1, PDX1, CDX2, PRHOXNB, FLT3, PAN3, FLT1, POMP, SLC46A3, MTUS2, SLC7A1, UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3, NBEA, MAB21L1, DCLK1, SOHLH2, CCDC169-SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, FAM48A, CSNK1A1L, POSTN, TRPC4, UFM1, FREM2, STOML3, PROSER1, NHLRC3, LHFP, COG6, FOXO1, MRPS31, SLC25A15, ELF1, WBP4, KBTBD6, KBTBD7, MTRF1, NAA16, RGCC, VWA8, DGKH, AKAP11, TNFSF11, FAM216B, EPSTI1, DNAJC15, ENOX1, CCDC122, LACC1, SERP2, TSC22D1, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1, ESD, HTR2A, SUCLA2, NUDT15, MED4, ITM2B, RB1, LPAR6, RCBTB2, CYSLTR2, FNDC3A, MLNR, CDADC1, CAB39L, SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7, RNASEH2B, FAM124A, SERPINE3, INTS6, WDFY2, DHRS12, CCDC70, ATP7B, ALG11, UTP14C, NEK5, NEK3, THSD1, VPS36, CKAP2, HNRNPA1L2, SUGT1, LECT1, PCDH8, OLFM4, PRR20A, PRR20B, PRR20E, PRR20D, PRR20C, PCDH17, DIAPH3, TDRD3, PCDH20, PCDH9, KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2, SLITRK1, SLITRK6, SLITRK5, GPC5, GPC6, DCT, TGDS, GPR180, SOX21, ABCC4, CLDN10, DZIP1, DNAJC3, UGGT2, HS6ST3, OXGR1, MBNL2, RAP2A, IPO5, FARP1, RNF113B, STK24, SLC15A1, DOCK9, UBAC2, GPR18, GPR183, TM9SF2, CLYBL, ZIC5, ZIC2, PCCA, GGACT, TMTC4, NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003768

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19309535
CNV End: 114110750
CNV Size: 94801215
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9, SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9B-AS1, C1QTNF9B, SPATA13, C1QTNF9, PARP4, ATP12A, RNF17, CENPJ, PABPC3, FAM123A, MTMR6, NUPL1, ATP8A2, SHISA2, RNF6, CDK8, WASF3, GPR12, USP12, RPL21, RASL11A, GTF3A, MTIF3, LNX2, POLR1D, GSX1, PDX1, CDX2, PRHOXNB, FLT3, PAN3, FLT1, POMP, SLC46A3, MTUS2, SLC7A1, UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3, NBEA, MAB21L1, DCLK1, SOHLH2, CCDC169-SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, FAM48A, CSNK1A1L, POSTN, TRPC4, UFM1, FREM2, STOML3, PROSER1, NHLRC3, LHFP, COG6, FOXO1, MRPS31, SLC25A15, ELF1, WBP4, KBTBD6, KBTBD7, MTRF1, NAA16, RGCC, VWA8, DGKH, AKAP11, TNFSF11, FAM216B, EPSTI1, DNAJC15, ENOX1, CCDC122, LACC1, SERP2, TSC22D1, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1, ESD, HTR2A, SUCLA2, NUDT15, MED4, ITM2B, RB1, LPAR6, RCBTB2, CYSLTR2, FNDC3A, MLNR, CDADC1, CAB39L, SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7, RNASEH2B, FAM124A, SERPINE3, INTS6, WDFY2, DHRS12, CCDC70, ATP7B, ALG11, UTP14C, NEK5, NEK3, THSD1, VPS36, CKAP2, HNRNPA1L2, SUGT1, LECT1, PCDH8, OLFM4, PRR20A, PRR20B, PRR20E, PRR20D, PRR20C, PCDH17, DIAPH3, TDRD3, PCDH20, PCDH9, KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2, SLITRK1, SLITRK6, SLITRK5, GPC5, GPC6, DCT, TGDS, GPR180, SOX21, ABCC4, CLDN10, DZIP1, DNAJC3, UGGT2, HS6ST3, OXGR1, MBNL2, RAP2A, IPO5, FARP1, RNF113B, STK24, SLC15A1, DOCK9, UBAC2, GPR18, GPR183, TM9SF2, CLYBL, ZIC5, ZIC2, PCCA, GGACT, TMTC4, NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005084

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19309535
CNV End: 114110750
CNV Size: 94801215
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9, SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9B-AS1, C1QTNF9B, SPATA13, C1QTNF9, PARP4, ATP12A, RNF17, CENPJ, PABPC3, FAM123A, MTMR6, NUPL1, ATP8A2, SHISA2, RNF6, CDK8, WASF3, GPR12, USP12, RPL21, RASL11A, GTF3A, MTIF3, LNX2, POLR1D, GSX1, PDX1, CDX2, PRHOXNB, FLT3, PAN3, FLT1, POMP, SLC46A3, MTUS2, SLC7A1, UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3, NBEA, MAB21L1, DCLK1, SOHLH2, CCDC169-SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, FAM48A, CSNK1A1L, POSTN, TRPC4, UFM1, FREM2, STOML3, PROSER1, NHLRC3, LHFP, COG6, FOXO1, MRPS31, SLC25A15, ELF1, WBP4, KBTBD6, KBTBD7, MTRF1, NAA16, RGCC, VWA8, DGKH, AKAP11, TNFSF11, FAM216B, EPSTI1, DNAJC15, ENOX1, CCDC122, LACC1, SERP2, TSC22D1, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1, ESD, HTR2A, SUCLA2, NUDT15, MED4, ITM2B, RB1, LPAR6, RCBTB2, CYSLTR2, FNDC3A, MLNR, CDADC1, CAB39L, SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7, RNASEH2B, FAM124A, SERPINE3, INTS6, WDFY2, DHRS12, CCDC70, ATP7B, ALG11, UTP14C, NEK5, NEK3, THSD1, VPS36, CKAP2, HNRNPA1L2, SUGT1, LECT1, PCDH8, OLFM4, PRR20A, PRR20B, PRR20E, PRR20D, PRR20C, PCDH17, DIAPH3, TDRD3, PCDH20, PCDH9, KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2, SLITRK1, SLITRK6, SLITRK5, GPC5, GPC6, DCT, TGDS, GPR180, SOX21, ABCC4, CLDN10, DZIP1, DNAJC3, UGGT2, HS6ST3, OXGR1, MBNL2, RAP2A, IPO5, FARP1, RNF113B, STK24, SLC15A1, DOCK9, UBAC2, GPR18, GPR183, TM9SF2, CLYBL, ZIC5, ZIC2, PCCA, GGACT, TMTC4, NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1
Show all Control Details Show all Cohort Details

13q12.11-q34

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11-q34

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 95654893

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control individuals reported.

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