Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1

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 39, With Dentinogenesis Imperfecta 1

DSPP

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1

Bilateral sensorineural hearing impairment
Tinnitus
High-frequency hearing impairment
Dentinogenesis imperfecta

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.

Alternative names

Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 Is also known as dfna39/dgi1 syndrome, dfna39/dentinogenesis imperfecta 1 syndrome, dgi1/dfna39 syndrome.

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 39, With Dentinogenesis Imperfecta 1 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 %
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 %
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SMPX, TECTA, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, ACTG1, PCDH15, STRC, USH1G, WHRN, OTOA, TMC1, TRIOBP, ADGRV1, CCDC50, CLDN14 , (...) View the complete list with 35 more genes Panel complete gene list SMPX, TECTA, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, ACTG1, PCDH15, STRC, USH1G, WHRN, OTOA, TMC1, TRIOBP, ADGRV1, CCDC50, CLDN14, LHFPL5, COCH, COL11A2, MYH14, CRYM, MARVELD2, TPRN, GRHL2, GSDME, DIAPH1, GPSM2, PJVK, DNMT1, DSPP, TMIE, CEACAM16, ESRRB, EYA4, GJB2, GJB6, HARS2, HSD17B4, KCNQ4, MASP1, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, SLC26A4, POU4F3, SLC26A5, RDX Specificity 2 % Genes 100 %
DSPP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). DSPP Specificity 100 % 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 %

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Sources and references

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