Deafness, Autosomal Dominant 56; Dfna56

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Zhao et al., 2013).

Genes related to Deafness, Autosomal Dominant 56; Dfna56

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Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Dominant 56; Dfna56

Hearing impairment
Sensorineural hearing impairment
Progressive hearing impairment

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Deafness, Autosomal Dominant 56; Dfna56 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States). ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...) View the complete list with 130 more genes Panel complete gene list ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, LOXL3, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2, STRC, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, CRYL1, CATSPER2, SLC17A8, POLR1C, CLDN14, POLR1D, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FOXI1, GATA3, ALMS1, GJB2, GJB6, HGF, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, MCM2, MET, MITF, MT-RNR1, MT-TL1, MT-TS1, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Non syndromic deafness AD (NGS panel for 33 genes). By CGC Genetics (Portugal). SIX1, TECTA, TJP2, WFS1, ACTG1, DIAPH3, TMC1, TMC2, CCDC50, SLC17A8, DIABLO, COCH, COL11A2, MYH14, CRYM, GRHL2, GSDME, DIAPH1, DSPP, MIR96 , (...) View the complete list with 11 more genes Panel complete gene list SIX1, TECTA, TJP2, WFS1, ACTG1, DIAPH3, TMC1, TMC2, CCDC50, SLC17A8, DIABLO, COCH, COL11A2, MYH14, CRYM, GRHL2, GSDME, DIAPH1, DSPP, MIR96, CEACAM16, EYA4, GJB2, GJB6, TNC, KCNQ4, MYH9, MYO1A, MYO6, MYO7A, POU4F3 Specificity 4 % Genes 100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics (Portugal). SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1 , (...) View the complete list with 105 more genes Panel complete gene list SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, CACNA1D, ACTG1, PCDH15, DIAPH3, ANKH, ABHD12, STRC, CD151, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TMC2, TRIOBP, CHSY1, ADGRV1, CDKN1C, CCDC50, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, LHFPL5, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, MYH14, SLITRK6, CRYM, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HGF, HOXB1, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MITF, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OTOF, OTOG, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes). By CGC Genetics (Portugal). SIX1, SLC12A1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, ACTG1, PCDH15, DIAPH3, STRC, WHRN, OTOA, TMC1 , (...) View the complete list with 58 more genes Panel complete gene list SIX1, SLC12A1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, ACTG1, PCDH15, DIAPH3, STRC, WHRN, OTOA, TMC1, TMC2, TRIOBP, CCDC50, GIPC3, SLC17A8, CLDN14, LHFPL5, DIABLO, COCH, COL11A2, COL4A6, MYH14, SLITRK6, CRYM, CIB2, LRTOMT, MARVELD2, LOXHD1, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, CEACAM16, ESRRB, EYA4, FOXI1, GJB2, GJB6, HGF, TNC, KARS, KCNJ10, KCNQ4, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, OTOG, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 2 % Genes 100 %
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel. By CeGaT GmbH (Germany). SMPX, TECTA, TJP2, WFS1, ACTG1, DIAPH3, TMC1, TMC2, CCDC50, SLC17A8, DIABLO, COCH, COL11A2, COL4A6, MYH14, CRYM, GRHL2, GSDME, DIAPH1, DSPP , (...) View the complete list with 14 more genes Panel complete gene list SMPX, TECTA, TJP2, WFS1, ACTG1, DIAPH3, TMC1, TMC2, CCDC50, SLC17A8, DIABLO, COCH, COL11A2, COL4A6, MYH14, CRYM, GRHL2, GSDME, DIAPH1, DSPP, MIR96, CEACAM16, EYA4, GJB2, GJB6, TNC, KCNQ4, MYH9, MYO1A, MYO6, MYO7A, POU3F4, POU4F3, PRPS1 Specificity 3 % Genes 100 %
Single gene testing TNC. By CeGaT GmbH (Germany). TNC Specificity 100 % Genes 100 %
Usher Syndrome. By Asper Biogene Asper Biogene LLC (Estonia). USH1C, USH2A, CLRN1, CDH23, PCDH15, ABHD12, USH1G, WHRN, ADGRV1, GIPC3, LHFPL5, COL4A6, CIB2, PDZD7, LOXHD1, DSPP, HARS, TNC, KARS, MYO7A Specificity 5 % Genes 100 %

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Sources and references

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OMIM Rare Disease Symptoms Checker

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