Hereditary Hearing Loss Homepage Updates Log

Added POLR1D (TCS2) to autosomal recessive Treacher-Collins syndrome genes (Schaefer et al., 2014).

Removed DFNA31.

Per correspondence from Dr. Hannie Kremer, the family in which DFNA31 was identified was studied in her lab and the 12-nucleotide RIPOR2 deletion underlying DFNA21 segregates with hearing loss in the family.  Thus, DFNA31 does not exist.

Added IKZF2 to ADNSHL genes (Velde et al., 2024).

Added OMIM locus identifier OTSC12 for SMARCA4.

Added MAP3K1 to ARNSHL genes (Faridi et al., 2024).

Added OMIM locus identifier DFNB125 for GAS2.

Added Heimler syndrome page with the following genes:

  • PEX1 (HMLR1)
  • PEX6 (HMLR2)
  • PEX26 (unassigned)
     

Added OMIM locus identifier DFNB124 for PKHD1L1.

Added CEP250 to ARNSHL genes (Kang et al., 2023).

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