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  3. KCNMA1
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Monogenic 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

2 reviews

Arina Puzriakova (Genomics England Curator)

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
Created: 23 Dec 2020, 3:30 p.m.
Last Modified: 23 Dec 2020, 3:30 p.m.
Panel version: 2.142

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

Created: 7 Feb 2016, 8:58 a.m.

Panel version: 0.105

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
OMIM
600150
Clinvar variants
Variants in KCNMA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kcnma1 has been classified as Red List (Low Evidence).

23 Dec 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KCNMA1 were set to

23 Dec 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KCNMA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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