DFNA31 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. IKZF2 Added IKZF2 to ADNSHL genes (Velde et al., 2024). OTSC12 Added OMIM locus identifier OTSC12 for SMARCA4. MAP3K1 Added MAP3K1 to ARNSHL genes (Faridi et al., 2024). DFNB125 Added OMIM locus identifier DFNB125 for GAS2. Heimler syndrome Added Heimler syndrome page with the following genes:PEX1 (HMLR1)PEX6 (HMLR2)PEX26 (unassigned) DFNB124 Added OMIM locus identifier DFNB124 for PKHD1L1. CEP250 Added CEP250 to ARNSHL genes (Kang et al., 2023). PKHD1L1 Added PKHD1L1 to ARNSHL genes (Redfield et al., 2024). USH1J Corrected the reference for USH1J to Riazuddin et al., 2012. Pagination Page 1 Page 2 Page 3 Page 4 Next page Next › Last page Last »
DFNA31 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.
Heimler syndrome Added Heimler syndrome page with the following genes:PEX1 (HMLR1)PEX6 (HMLR2)PEX26 (unassigned)
DFNA31
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.
IKZF2
Added IKZF2 to ADNSHL genes (Velde et al., 2024).
OTSC12
Added OMIM locus identifier OTSC12 for SMARCA4.
MAP3K1
Added MAP3K1 to ARNSHL genes (Faridi et al., 2024).
DFNB125
Added OMIM locus identifier DFNB125 for GAS2.
Heimler syndrome
Added Heimler syndrome page with the following genes:
DFNB124
Added OMIM locus identifier DFNB124 for PKHD1L1.
CEP250
Added CEP250 to ARNSHL genes (Kang et al., 2023).
PKHD1L1
Added PKHD1L1 to ARNSHL genes (Redfield et al., 2024).
USH1J
Corrected the reference for USH1J to Riazuddin et al., 2012.