Copy Number Variants / 13q12.11-q21.2

13q12.11-q21.2

Type
Deletion
Average Length
95234689
Range
19850452-115085141
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

A deletion within this region was identified in a case with multiple congenital anomalies from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013).

Reports related to 13q12.11-q21.2 (1 Reports)
# Type Title Author, Year
1 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
Show all Case Details Show all Cohort Details

13q12.11-q21.2

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 95234689

Deletion: 1
Duplication: 0

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

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC7179

Clinical Profile:

Database: Signature. Indication for study: Multiple Congenital Anomalies, mosaic monosomy 13/der(13)/normal

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19850452
CNV End: 115085141
CNV Size: 95234689
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: hg19
Gene Content: 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, AMER2, 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, CCDC169-SOHLH2, SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, SUPT20H, 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, PRR20E, PRR20C, PRR20B, PRR20D, 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, TMEM255B, GAS6, RASA3, CDC16, UPF3A, CHAMP1
Show all Control Details Show all Cohort Details

13q12.11-q21.2

Description:

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.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
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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