DFNA90 and DFNB122 Added OMIM locus identifiers DFNA90 for MYO3A and DFNB122 for TMTC4. Update 2/9/24 Moved "Auditory Neuropathy" page to "Nonsyndromic Hearing Loss" section.Added "Auditory neuropathy associated genes" count to front page.Updated "Total nonsyndromic hearing loss associated genes" count to include auditory neuropathy genes. Update 1/12/24 Added mitochondrial nonsyndromic hearing loss page with the following 9 genes:MT-CO1MT-ND1MT-RNR1MT-THMT-TIMT-TL1MT-TKMT-TS1MT-TS2Added otosclerosis page with the following genes:FOXL1 (OTSC11)SERPINF1 (unassigned) - disputedMEPE (unassigned)SMARCA4 (unassigned) TMTC4 Added ARNSHL gene TMTC4 (Li et al., 2023). Update 12/23/2023 Added evidence column to tables with ClinGen gene-disease validity classifications.Added 15 ADNSHL genes:ABCC1 (DFNA77)ATOH1 (DFNA89)ATP11A (DFNA84)ELMOD3 (DFNA81)EPHA10 (DFNA88)ESPN (unassigned)GJA1 (unassigned) - disputedGREB1L (DFNA80)MYO1C (unassigned) - disputedNCOA3 (unassigned)PI4KB (DFNA87) SLC44A4 (DFNA72)THOC1 (DFNA86)TMTC2 (unassigned) - disputedUSP48 (DFNA85)Added 9 ARNSHL genes:AFG2B (DFNB119)CEMIP (unassigned) - disputedCOCH (DFNB110)GDF6 (DFNB118)GOSR2 (unassigned)GPR156 (DFNB121)LRP5 (unassigned)MINAR2 (DFNB120)USH1G (unassigned) - disputedAdded 1 X-linked NSHL gene:GPRASP2 (DFNX7)Added 1 Y-linked NSHL gene:TBL1Y (DFNY2)Added 4 auditory neuropathy genes:AIFM1 (AUNX1)ATP11A (AUNA2)OTOF (AUNB1)TMEM43 (AUNA3)Added 1 Perrault syndrome gene:PEX6 (unassigned)Added 1 Stickler syndrome gene:COL9A3 (STL6)Added 1 Treacher Collins syndrome gene:POLR1B (TCS4)Added 1 Waardenburg syndrome gene:KITLG (WS2F)Checked and updated all links and references.Combined gene and locus tables.Corrected DFNB2C to "unassigned". GJB6 Removed GJB6 from ARNSHL. GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701. GAS2 Added GAS2 (Chen et al 2021) to ARNSHL FAM65B/RIPOR2 RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020). CLRN2 Added CLRN2 (Vona et al 2021) to ARSNHL MAP1B Added MAP1B (Cui et al 2020) to ADNSHL Pagination First page « First Previous page ‹ Previous Page 1 Page 2 Page 3 Page 4 Next page Next › Last page Last »
Update 2/9/24 Moved "Auditory Neuropathy" page to "Nonsyndromic Hearing Loss" section.Added "Auditory neuropathy associated genes" count to front page.Updated "Total nonsyndromic hearing loss associated genes" count to include auditory neuropathy genes.
Update 1/12/24 Added mitochondrial nonsyndromic hearing loss page with the following 9 genes:MT-CO1MT-ND1MT-RNR1MT-THMT-TIMT-TL1MT-TKMT-TS1MT-TS2Added otosclerosis page with the following genes:FOXL1 (OTSC11)SERPINF1 (unassigned) - disputedMEPE (unassigned)SMARCA4 (unassigned)
Update 12/23/2023 Added evidence column to tables with ClinGen gene-disease validity classifications.Added 15 ADNSHL genes:ABCC1 (DFNA77)ATOH1 (DFNA89)ATP11A (DFNA84)ELMOD3 (DFNA81)EPHA10 (DFNA88)ESPN (unassigned)GJA1 (unassigned) - disputedGREB1L (DFNA80)MYO1C (unassigned) - disputedNCOA3 (unassigned)PI4KB (DFNA87) SLC44A4 (DFNA72)THOC1 (DFNA86)TMTC2 (unassigned) - disputedUSP48 (DFNA85)Added 9 ARNSHL genes:AFG2B (DFNB119)CEMIP (unassigned) - disputedCOCH (DFNB110)GDF6 (DFNB118)GOSR2 (unassigned)GPR156 (DFNB121)LRP5 (unassigned)MINAR2 (DFNB120)USH1G (unassigned) - disputedAdded 1 X-linked NSHL gene:GPRASP2 (DFNX7)Added 1 Y-linked NSHL gene:TBL1Y (DFNY2)Added 4 auditory neuropathy genes:AIFM1 (AUNX1)ATP11A (AUNA2)OTOF (AUNB1)TMEM43 (AUNA3)Added 1 Perrault syndrome gene:PEX6 (unassigned)Added 1 Stickler syndrome gene:COL9A3 (STL6)Added 1 Treacher Collins syndrome gene:POLR1B (TCS4)Added 1 Waardenburg syndrome gene:KITLG (WS2F)Checked and updated all links and references.Combined gene and locus tables.Corrected DFNB2C to "unassigned".
DFNA90 and DFNB122
Added OMIM locus identifiers DFNA90 for MYO3A and DFNB122 for TMTC4.
Update 2/9/24
Update 1/12/24
TMTC4
Added ARNSHL gene TMTC4 (Li et al., 2023).
Update 12/23/2023
GJB6
Removed GJB6 from ARNSHL.
GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701.
GAS2
Added GAS2 (Chen et al 2021) to ARNSHL
FAM65B/RIPOR2
RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020).
CLRN2
Added CLRN2 (Vona et al 2021) to ARSNHL
MAP1B
Added MAP1B (Cui et al 2020) to ADNSHL