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. STX4 (DFNB123) Added STX4 (DFNB123) to ARNSHL genes (Schrauwen et al., 2023). NCOA3 Corrected references for ADNSHL gene NCOA3 to Salazar-Silva et al., 2021. Pagination Page 1 Page 2 Page 3 Page 4 Next page Next › Last page Last »
Heimler syndrome Added Heimler syndrome page with the following genes:PEX1 (HMLR1)PEX6 (HMLR2)PEX26 (unassigned)
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.
STX4 (DFNB123)
Added STX4 (DFNB123) to ARNSHL genes (Schrauwen et al., 2023).
NCOA3
Corrected references for ADNSHL gene NCOA3 to Salazar-Silva et al., 2021.