Auditory Neuropathy And Optic Atrophy; Anoa

Table of contents:

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

Description

ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).

Genes related to Auditory Neuropathy And Optic Atrophy; Anoa

FDXR

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Auditory Neuropathy And Optic Atrophy; Anoa

Hearing impairment
Nystagmus
Delayed speech and language development
Visual impairment
Peripheral neuropathy
Optic atrophy
Rod-cone dystrophy
Pallor
Ophthalmoplegia
Optic disc pallor

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Auditory Neuropathy And Optic Atrophy; Anoa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FDXR. By Fulgent Genetics Fulgent Genetics (United States). FDXR 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 %
Ataxia Panel. By Blueprint Genetics (Finland). SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...) View the complete list with 137 more genes Panel complete gene list SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8, CACNA1A, CACNB4, ELOVL4, TMEM237, CAPN1, CASK, SNX14, LRPPRC, ABHD12, APTX, TGM6, PNPLA6, TRIM32, ZNF423, COQ8A, SYNE1, LARS2, BBS7, CAMTA1, TDP1, GBA2, EBF3, TTBK2, CCDC88C, TTC8, CLCN2, NUBPL, CYP2U1, TPP1, CLN5, ZFYVE26, TUBB4A, CLPP, SERAC1, FA2H, ELOVL5, INPP5E, AHI1, RNF216, CP, SYT14, UBA5, BEAN1, TCTN3, SIL1, FLVCR1, CSTB, TMEM216, MARS2, TMEM240, SLC25A46, ARL13B, ANO10, MTPAP, CWF19L1, OFD1, TCTN2, CPLANE1, TTC19, CYP27A1, TCTN1, BBS10, WDR81, BBS12, TMEM138, COX20, WDPCP, TMEM67, NDUFAF6, RUBCN, CEP290, RPGRIP1L, CC2D2A, MTFMT, DNMT1, COASY, BBS9, SLC52A2, KIF7, PRRT2, DNAJC19, AFG3L2, EEF2, FDXR, FGF14, TMEM231, FMR1, FXN, ALDH5A1, GFAP, GOSR2, SETX, GRID2, GRM1, GSS, ABCB7, HARS2, HIBCH, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, LMNB1, MKKS, MKS1, MME, MRE11, MTTP, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, ATCAY, NOL3, NPHP1, ATM, ATP1A3, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, POLG, PPP2R2B, PRKCG, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Neuro-Ophthalmology Panel. By Blueprint Genetics (Finland). SLC25A4, SOX2, SPG7, TWNK, ACO2, TIMM8A, TK2, WFS1, ROBO3, SALL4, APTX, MFN2, RRM2B, RTN4IP1, KIF21A, CHN1, GPR143, TUBB3, ANTXR1, CISD2 , (...) View the complete list with 18 more genes Panel complete gene list SLC25A4, SOX2, SPG7, TWNK, ACO2, TIMM8A, TK2, WFS1, ROBO3, SALL4, APTX, MFN2, RRM2B, RTN4IP1, KIF21A, CHN1, GPR143, TUBB3, ANTXR1, CISD2, SLC25A46, TMEM126A, C12orf65, TYMP, SLC38A8, FDXR, SETX, HESX1, PHOX2A, NDUFS1, NR2F1, FRMD7, OPA1, OPA3, OTX2, PAX6, POLG, PRPS1 Specificity 3 % Genes 100 %
Syndromic Hearing Loss Panel. By Blueprint Genetics (Finland). BCS1L, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, BTD, TWNK, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D , (...) View the complete list with 65 more genes Panel complete gene list BCS1L, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, BTD, TWNK, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, ACTG1, PCDH15, ANKH, ABHD12, SLC52A3, CD151, USH1G, WHRN, NLRP3, BSND, LARS2, CHSY1, ADGRV1, CDKN1C, POLR1C, POLR1D, CHD7, CLPP, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PEX26, SLITRK6, CIB2, DCAF17, PDZD7, DLX5, DNMT1, SLC52A2, EDN3, EDNRB, EYA1, FDXR, FGF3, FOXI1, GATA3, GJA1, ALMS1, HARS, HARS2, HOXB1, KCNE1, KCNJ10, KCNQ1, LRP2, SMAD4, MAN2B1, MANBA, MGP, MITF, MYH9, MYO7A, NDP, ATP6V1B1, ATP6V1B2, PAX3, SLC26A4, PEX1, PEX6 Specificity 2 % Genes 100 %
Optic Atrophy Panel. By Blueprint Genetics (Finland). SPG7, ACO2, TIMM8A, WFS1, SNX10, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, SLC52A2, FDXR, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1 Specificity 6 % Genes 100 %
OPTIC ATROPHY NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SPG7, ACO2, TIMM8A, WFS1, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, DNM1L, FDXR, NDUFS1, NR2F1, OPA1, OPA3, POLG Specificity 6 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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