Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: KCNMA1

Red List (low evidence)

KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#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]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNMA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert