Deafness, Autosomal Recessive 42; Dfnb42

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 42; Dfnb42

ILDR1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 42; Dfnb42

Hearing impairment
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 42; Dfnb42 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 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...) View the complete list with 89 more genes Panel complete gene list BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, OSBPL2, STRC, SLC52A3, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, ADGRV1, CCDC50, GIPC3, CATSPER2, CLDN14, CHD7, CLPP, LHFPL5, DIABLO, COCH, COL11A2, COL4A3, COL4A4, COL4A5, ADCY1, MYH14, SLITRK6, CIB2, LRTOMT, CEP78, PDZD7, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, SLC52A2, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, EPS8, ESRRB, EYA1, EYA4, ALMS1, GJB2, GJB6, HARS, HARS2, HGF, HSD17B4, KARS, KCNE1, KCNQ1, KCNQ4, KITLG, MITF, MT-TS1, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOF, OTOG, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, PRPS1, 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 %
Deafness, autosomal recessive 42 (sequence analysis of ILDR1 gene). By CGC Genetics (Portugal). ILDR1 Specificity 100 % Genes 100 %
Non syndromic deafness AR and XL (NGS panel for 56 genes). By CGC Genetics (Portugal). SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, ESPN, CLIC5, CDH23, CABP2, PCDH15, STRC, WHRN, OTOA, TMC1, TMC2, TRIOBP, GIPC3, CLDN14, LHFPL5 , (...) View the complete list with 35 more genes Panel complete gene list SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, ESPN, CLIC5, CDH23, CABP2, PCDH15, STRC, WHRN, OTOA, TMC1, TMC2, TRIOBP, GIPC3, CLDN14, LHFPL5, COL11A2, COL4A6, SLITRK6, CIB2, LRTOMT, MARVELD2, LOXHD1, TPRN, OTOGL, MSRB3, ILDR1, GPSM2, PJVK, TMIE, GRXCR1, ESRRB, FOXI1, GJB2, GJB6, HGF, KARS, 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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