Hearing lossGene: KCNMA1
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.
Created: 23 Dec 2020, 3:30 p.m. | Last Modified: 23 Dec 2020, 3:30 p.m.
Panel Version: 2.142
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
#609446:Generalized epilepsy and paroxysmal dyskinesia[Seizures, absenceSeizures, generalized tonic-clonicParoxysmal nonkinesigenic dyskinesiaInvoluntary dystonic or choreiform movementsInterictal EEG shows 3-4 Hz general spike-wave complexes]
Gene: kcnma1 has been classified as Red List (Low Evidence).
Publications for gene: KCNMA1 were set to
Mode of inheritance for gene: KCNMA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNMA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert