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Monogenic hearing loss v2.142 KCNMA1 Arina Puzriakova Classified gene: KCNMA1 as Red List (low evidence)
Monogenic hearing loss v2.142 KCNMA1 Arina Puzriakova Added comment: Comment on list classification: Multiple individuals with KCNMA1-related channelopathy characterised by a variety of neurologic symptoms, with both mono- and biallelic cases reported. Only a single patient described by Liang et al., 2019 (PMID: 31152168) with hearing impairment and therefore a Red rating on this panel is appropriate.
Monogenic hearing loss v2.142 KCNMA1 Arina Puzriakova Gene: kcnma1 has been classified as Red List (Low Evidence).
Monogenic hearing loss v2.141 KCNMA1 Arina Puzriakova Publications for gene: KCNMA1 were set to
Monogenic hearing loss v2.140 KCNMA1 Arina Puzriakova Mode of inheritance for gene: KCNMA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown