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  2. Dystonia - isolated/combined
  3. KCNMA1
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Dystonia - isolated/combined

Gene: KCNMA1

Green List (high 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One family segregating a heterozygous variant and 3 cases with de novo variants with paroxysmal nonkinesigenic dyskinesia with or without other features such as developmental delay or epilepsy. 7 members of the large family and a single de novo have isolated PNKD, which is classified as a combined dystonia. Functional assays show gain-of-function for missense variant segregating in the large family.
Sources: Expert list
Created: 6 Apr 2020, 12:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446

Publications

Mode of pathogenicity
Other

Created: 6 Apr 2020, 12:43 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446
OMIM
600150
Clinvar variants
Variants in KCNMA1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnma1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnma1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNMA1 was added gene: KCNMA1 was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNMA1 were set to 26195193; 15937479; 29356177 Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Mode of pathogenicity for gene: KCNMA1 was set to Other Review for gene: KCNMA1 was set to GREEN