Hereditary Hearing Loss Homepage Updates Log

  • 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.

aeshearer

Mon, 08/30/2021 - 10:37

Added GAS2 (Chen et al 2021) to ARNSHL

aeshearer

Fri, 02/05/2021 - 19:04

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

aeshearer

Sun, 01/31/2021 - 16:16

Added CLRN2 (Vona et al 2021) to ARSNHL

aeshearer

Tue, 12/08/2020 - 10:46

Added MAP1B (Cui et al 2020) to ADNSHL