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Date	Panel	Item	Activity
Filter activities 5 actions
23 Dec 2020	Monogenic hearing loss v2.142	KCNMA1	Arina Puzriakova Classified gene: KCNMA1 as Red List (low evidence)
23 Dec 2020	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.
23 Dec 2020	Monogenic hearing loss v2.142	KCNMA1	Arina Puzriakova Gene: kcnma1 has been classified as Red List (Low Evidence).
23 Dec 2020	Monogenic hearing loss v2.141	KCNMA1	Arina Puzriakova Publications for gene: KCNMA1 were set to
23 Dec 2020	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