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  3. KCNMA1

Brain channelopathy

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

3 reviews

Sarah Leigh (Genomics England Curator)

After consultation with Helen Brittain (Genomics England Clinical Fellow), it is recommened that the MOI for this gene should be made: Both biallelic and monoallelic to incorporate the phenotype OMIM:617643.
Created: 24 Mar 2022, 2:09 p.m. | Last Modified: 24 Mar 2022, 2:09 p.m.
Panel Version: 1.78

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy, developmental delay, and seizures, OMIM:617643

Publications

Created: 24 Mar 2022, 2:09 p.m.
Last Modified: 24 Mar 2022, 2:09 p.m.
Panel version: 1.78

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Green as there are sufficient unrelated cases (3) with early-onset paroxysmal nonkinesigenic dyskinesia associated with monoallelic variants in this potassium channel gene. KCNMA1 is also Green on the 'Paroxysmal central nervous system disorders v1.7' GMS panel.
Created: 23 Dec 2020, 3:07 p.m. | Last Modified: 23 Dec 2020, 3:07 p.m.
Panel Version: 1.56
Created: 23 Dec 2020, 3:07 p.m.
Last Modified: 23 Dec 2020, 3:07 p.m.
Panel version: 1.56

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Potassium channel gene which is associated with several phenotypes, including paroxysmal dyskinesia in at least three unrelated families.
Sources: Expert list
Created: 20 Aug 2020, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Aug 2020, 8:05 a.m.

Panel version: 1.55

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
  • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
OMIM
600150
Clinvar variants
Variants in KCNMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276

23 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KCNMA1 was added gene: KCNMA1 was added to Brain channelopathy. 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 15937479; 26195193 Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Review for gene: KCNMA1 was set to GREEN gene: KCNMA1 was marked as current diagnostic