Deafness, Autosomal Recessive 101; Dfnb101

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 Recessive 101; Dfnb101

GRXCR2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 101; Dfnb101

Hearing impairment
Sensorineural hearing impairment
Bilateral sensorineural hearing impairment
Severe sensorineural 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 Recessive 101; Dfnb101 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 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...) View the complete list with 85 more genes Panel complete gene list BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2, ABHD12, STRC, SLC52A3, USH1G, WHRN, OTOA, SLC4A11, BSND, TMC1, TRIOBP, LARS2, ADGRV1, CCDC50, GIPC3, SLC17A8, CLDN14, CLPP, LHFPL5, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, SLITRK6, CISD2, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, SLC52A2, TMIE, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FGF3, ALMS1, GJB2, GJB6, HARS, HARS2, HGF, HSD17B4, KCNE1, KCNQ1, KCNQ4, MITF, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). RPS6KA3, SALL1, SIX1, SIX5, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, CLIC5, CDH23, CABP2 , (...) View the complete list with 109 more genes Panel complete gene list RPS6KA3, SALL1, SIX1, SIX5, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, OSBPL2, ABHD12, SALL4, USH1G, WHRN, OTOA, BSND, TMC1, TRIOBP, LARS2, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, ABHD5, DIABLO, COCH, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, SLC29A3, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, DNMT1, DSPP, TMIE, GRXCR1, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, ALMS1, GJB2, GJB6, HARS2, HGF, HSD17B4, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MASP1, MITF, ARSB, MT-RNR1, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OPA1, OTOF, OTOG, ATP6V1B1, PAX3, AIFM1, SLC26A4, SERPINB6, PITX2, POU3F4, SLC26A5, PRPS1, RDX Specificity 1 % Genes 100 %
GRXCR2. By Fulgent Genetics Fulgent Genetics (United States). GRXCR2 Specificity 100 % Genes 100 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics (Finland). BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3 , (...) View the complete list with 157 more genes Panel complete gene list BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WBP2, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, SALL4, STRC, SLC52A3, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CDKN1C, CCDC50, SPATA5, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, RMND1, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PEX26, SLC29A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CIB2, LRTOMT, TRMU, CEP78, DCAF17, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, GPSM2, PJVK, DNMT1, SLC52A2, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR3, FOXI1, GATA3, GJA1, ALMS1, GJB2, GJB6, HARS, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, LRP2, SMAD4, MAN2B1, MANBA, MET, MGP, MITF, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, SLC33A1, RDX Specificity 1 % Genes 100 %
Non-Syndromic Hearing Loss Panel. By Blueprint Genetics (Finland). SIX1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WBP2, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2 , (...) View the complete list with 74 more genes Panel complete gene list SIX1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WBP2, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2, STRC, CD164, WHRN, OTOA, BSND, TMC1, TRIOBP, CDC14A, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, CLDN14, LHFPL5, EPS8L2, DIABLO, COCH, COL11A2, COL4A6, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CIB2, LRTOMT, ELMOD3, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, S1PR2, CEACAM16, GRXCR2, EPS8, ESRRB, EYA4, GJB2, GJB6, HGF, TNC, KARS, KCNQ4, MET, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOF, OTOG, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, RDX Specificity 2 % Genes 100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, WBP2, CLIC5, CDH23, CABP2, RIPOR2, PCDH15, STRC, WHRN, BSND, TMC1, TRIOBP, CDC14A, DCDC2, GIPC3 , (...) View the complete list with 42 more genes Panel complete gene list SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, WBP2, CLIC5, CDH23, CABP2, RIPOR2, PCDH15, STRC, WHRN, BSND, TMC1, TRIOBP, CDC14A, DCDC2, GIPC3, CLDN14, LHFPL5, COL11A2, COL4A6, PNPT1, ADCY1, CIB2, LRTOMT, ELMOD3, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, MSRB3, ILDR1, GPSM2, PJVK, TMIE, GRXCR1, S1PR2, GRXCR2, EPS8, ESRRB, FOXI1, GJB2, GJB6, HGF, KCNJ10, MYO15A, MYO3A, MYO6, MYO7A, OTOF, OTOG, SLC26A4, SERPINB6, POU3F4, SLC26A5, PRPS1, PTPRQ, RDX Specificity 2 % Genes 100 %

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Sources and references

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