Submitted by admin on Thu, 05/17/2018 - 16:59 We will use this page to provide information on updates to the HHL Homepage. Log in to post comments Comments Update 9/20/18 The following genes were added: Dominant: DFNA7 LMX1A Wesdorp et al., 2018 Dominant: PDE1C Wang et al., 2018 Recessive: MPZL2 Wesdorp et al., 2018 Dominant: REST Nakano et al., 2018 Log in to post comments Update 9/27/18 Syndromic hearing loss pages added Log in to post comments Update 9/30/18 Dominant: DFNA37 COL11A1 Booth et al 2018 Log in to post comments Corrected links on the… Corrected links on the autosomal recessive and X-linked pages. Log in to post comments Added GAB1 as the cause of… Added GAB1 as the cause of DFNB26 with METTL13 as DFNM1 modifier GRAP as a cause of ARNSHL Log in to post comments Update 4/23/19 Added CEACAM16 to the Autosomal Recessive page Log in to post comments SPNS2 Added SPNS2 to Autosomal Recessive gene page Log in to post comments CLDN9 Added CLDN9 to autosomal recessive NSHL gene page Log in to post comments TRRAP Added TRRAP (Xia et al 2019) to ADNSHL page Log in to post comments PLS1 Added PLS1 (Morgan et al 2019) to ADNSHL Log in to post comments SCD5 Added SCD5 (Lu et al 2020) to ADNSHL Log in to post comments SLC12A2 Added SLC12A2 (Mutai et al 2020) to ADNSHL Log in to post comments MAP1B Added MAP1B (Cui et al 2020) to ADNSHL Log in to post comments CLRN2 Added CLRN2 (Vona et al 2021) to ARSNHL Log in to post comments FAM65B/RIPOR2 RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020). Log in to post comments GAS2 Added GAS2 (Chen et al 2021) to ARNSHL Log in to post comments GJB6 Removed GJB6 from ARNSHL. GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701. Log in to post comments
Update 9/20/18 The following genes were added: Dominant: DFNA7 LMX1A Wesdorp et al., 2018 Dominant: PDE1C Wang et al., 2018 Recessive: MPZL2 Wesdorp et al., 2018 Dominant: REST Nakano et al., 2018 Log in to post comments
Corrected links on the… Corrected links on the autosomal recessive and X-linked pages. Log in to post comments
Added GAB1 as the cause of… Added GAB1 as the cause of DFNB26 with METTL13 as DFNM1 modifier GRAP as a cause of ARNSHL Log in to post comments
FAM65B/RIPOR2 RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020). Log in to post comments
GJB6 Removed GJB6 from ARNSHL. GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701. Log in to post comments
Comments
Update 9/20/18
The following genes were added:
Dominant: DFNA7 LMX1A Wesdorp et al., 2018
Dominant: PDE1C Wang et al., 2018
Recessive: MPZL2 Wesdorp et al., 2018
Dominant: REST Nakano et al., 2018
Update 9/27/18
Syndromic hearing loss pages added
Update 9/30/18
Dominant: DFNA37 COL11A1 Booth et al 2018
Corrected links on the…
Corrected links on the autosomal recessive and X-linked pages.
Added GAB1 as the cause of…
Added
GAB1 as the cause of DFNB26 with METTL13 as DFNM1 modifier
GRAP as a cause of ARNSHL
Update 4/23/19
Added CEACAM16 to the Autosomal Recessive page
SPNS2
Added SPNS2 to Autosomal Recessive gene page
CLDN9
Added CLDN9 to autosomal recessive NSHL gene page
TRRAP
Added TRRAP (Xia et al 2019) to ADNSHL page
PLS1
Added PLS1 (Morgan et al 2019) to ADNSHL
SCD5
Added SCD5 (Lu et al 2020) to ADNSHL
SLC12A2
Added SLC12A2 (Mutai et al 2020) to ADNSHL
MAP1B
Added MAP1B (Cui et al 2020) to ADNSHL
CLRN2
Added CLRN2 (Vona et al 2021) to ARSNHL
FAM65B/RIPOR2
RIPOR2 (previously known as FAM65B) was added to ADNSHL (de Bruijn et al 2020).
GAS2
Added GAS2 (Chen et al 2021) to ARNSHL
GJB6
Removed GJB6 from ARNSHL.
GJB6 is refuted as an ARNSHL gene by ClinGen, notably PMID: 30894701.