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

RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020). 

Added CLRN2 (Vona et al 2021) to ARSNHL

Added MAP1B (Cui et al 2020) to ADNSHL

Added SLC12A2 (Mutai et al 2020) to ADNSHL

Added SCD5 (Lu et al 2020) to ADNSHL

Added PLS1 (Morgan et al 2019) to ADNSHL

Added TRRAP (Xia et al 2019) to ADNSHL page