Auditory Neuropathy, Autosomal Dominant, 1; Auna1

Table of contents:

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

Description

Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.

Genes related to Auditory Neuropathy, Autosomal Dominant, 1; Auna1

DIAPH3

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Clinical Features

Phenotypes and symptoms related to Auditory Neuropathy, Autosomal Dominant, 1; Auna1

Hearing impairment
Ataxia
Sensorineural hearing impairment
Peripheral neuropathy
Poor speech
Severe hearing impairment
Abnormal auditory evoked potentials
Absence of acoustic reflex
Abnormal speech discrimination

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

Auditory Neuropathy, Autosomal Dominant, 1; Auna1 Is also known as auditory neuropathy, nonsyndromic dominant, nsdan.

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.

Auditory Neuropathy, Autosomal Dominant, 1; Auna1 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 %
Autism Spectrum Disorders 53-Gene Panel. By Center for Human Genetics, Inc (United States). RPL10, SYN1, SYNGAP1, TSPAN7, PCDH10, CNTNAP2, SH3KBP1, CACNA1H, PCDH19, NLGN4X, NLGN3, NLGN1, SHANK3, SHANK2, WNK3, DIAPH3, RAB39B, NOS1AP, ASTN2, CNTNAP5 , (...) View the complete list with 32 more genes Panel complete gene list RPL10, SYN1, SYNGAP1, TSPAN7, PCDH10, CNTNAP2, SH3KBP1, CACNA1H, PCDH19, NLGN4X, NLGN3, NLGN1, SHANK3, SHANK2, WNK3, DIAPH3, RAB39B, NOS1AP, ASTN2, CNTNAP5, MDGA2, SLC9A9, DPP10, PDZD4, RIMS3, ANKRD11, CNTN4, PTCHD1, FRMPD4, DLGAP2, FBXO40, DPP6, FABP5, FABP7, FOXP1, GLRA2, CXCR3, GRIN2A, GRIN2B, GRPR, HNRNPH2, CADM1, KCNMA1, MBD1, MBD3, MBD4, MECP2, MEF2C, NRXN1, NRXN2, PCDH9, PTEN 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 %
Auditory neuropathy 1 AD (sequence analysis of DIAPH3 gene). By CGC Genetics (Portugal). DIAPH3 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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