Hereditary Hearing Loss Homepage Updates Log

• 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) - disputed
  • GREB1L (DFNA80)
  • MYO1C (unassigned) - disputed
  • NCOA3 (unassigned)
  • PI4KB (DFNA87) 
  • SLC44A4 (DFNA72)
  • THOC1 (DFNA86)
  • TMTC2 (unassigned) - disputed
  • USP48 (DFNA85)
• Added 9 ARNSHL genes:
  • AFG2B (DFNB119)
  • CEMIP (unassigned) - disputed
  • COCH (DFNB110)
  • GDF6 (DFNB118)
  • GOSR2 (unassigned)
  • GPR156 (DFNB121)
  • LRP5 (unassigned)
  • MINAR2 (DFNB120)
  • USH1G (unassigned) - disputed
• Added 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".

Removed GJB6 from ARNSHL.

GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701.

Added GAS2 (Chen et al., 2021) to ARNSHL page.

Added RIPOR2 (previously known as FAM65B) to ADNSHL page (de Bruijn et al., 2020). 

Added CLRN2 (Vona et al., 2021) to ARSNHL page.

Added MAP1B (Cui et al., 2020) to ADNSHL page.

Added SLC12A2 (Mutai et al., 2020) to ADNSHL page.

Added SCD5 (Lu et al., 2020) to ADNSHL page.

Added PLS1 (Morgan et al., 2019) to ADNSHL page.

Added TRRAP (Xia et al., 2019) to ADNSHL page.