Deafness, Autosomal Dominant 23; Dfna23

Table of contents:

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

Genes related to Deafness, Autosomal Dominant 23; Dfna23

SIX1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Dominant 23; Dfna23

Hearing impairment
Sensorineural hearing impairment
Conductive hearing impairment
Vesicoureteral reflux
Preauricular pit
Profound 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 23; Dfna23 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 %
NGS Hearing Loss Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...) View the complete list with 70 more genes Panel complete gene list SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN, OTOA, BSND, TMC1, TRIOBP, LARS2, ADGRV1, CCDC50, GIPC3, CATSPER2, SLC17A8, CLDN14, CLPP, LHFPL5, DIABLO, COCH, COL11A2, COL4A3, COL4A4, COL4A5, MYH14, CRYM, CIB2, LRTOMT, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, GPSM2, PJVK, TMIE, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FOXI1, GJB2, GJB6, HARS2, HGF, HSD17B4, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MAN2B1, MITF, MT-RNR1, MT-TS1, MYH9, MYO15A, MYO6, MYO7A, OTOF, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, RDX Specificity 2 % 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 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...) View the complete list with 100 more genes Panel complete gene list RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, DIAPH3, ANKH, ABHD12, SALL4, STRC, DTD1, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, ADGRV1, CDKN1C, CCDC50, GIPC3, SLC17A8, CLDN14, CHD7, LHFPL5, ABHD5, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, SLC29A3, MYH14, CRYM, CISD2, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, GPSM2, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GJB2, GJB6, HGF, HSD17B4, KCNE1, KCNJ10, KCNQ1, KCNQ4, MASP1, MITF, ARSB, MT-RNR1, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OTOF, ATP6V1B1, PAX3, SLC26A4, SERPINB6, PITX2, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, WHRN, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A , (...) View the complete list with 3 more genes Panel complete gene list SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, WHRN, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A, OTOF, SLC26A4, POU3F4 Specificity 5 % Genes 100 %
Branchiootorenal Spectrum Disorder Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SIX1, SIX5, EYA1 Specificity 34 % Genes 100 %
SIX1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SIX1 Specificity 100 % Genes 100 %
OtoSeq Hearing Loss Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A, OTOF , (...) View the complete list with 2 more genes Panel complete gene list SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A, OTOF, SLC26A4, POU3F4 Specificity 5 % Genes 100 %

You can get up to 56 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B INCONTINENTIA PIGMENTI AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME AICARDI-GOUTIERES SYNDROME 3; AGS3 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12