Hereditary Hearing Loss Homepage Updates Log

Added PKHD1L1 to ARNSHL genes (Redfield et al., 2024).

Corrected the reference for USH1J to Riazuddin et al., 2012.

Added STX4 (DFNB123) to ARNSHL genes (Schrauwen et al., 2023).

Corrected references for ADNSHL gene NCOA3 to Salazar-Silva et al., 2021.

  • 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.

  • Added mitochondrial nonsyndromic hearing loss page with the following 9 genes:
    • MT-CO1
    • MT-ND1
    • MT-RNR1
    • MT-TH
    • MT-TI
    • MT-TL1
    • MT-TK
    • MT-TS1
    • MT-TS2
  • Added otosclerosis page with the following genes:
    • FOXL1 (OTSC11)
    • SERPINF1 (unassigned) - disputed
    • MEPE (unassigned)
    • SMARCA4 (unassigned)

Added ARNSHL gene TMTC4 (Li et al., 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) - 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.