Brain channelopathy
Gene: KCNMA1After 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
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
Potassium channel gene which is associated with several phenotypes, including paroxysmal dyskinesia in at least three unrelated families.
Sources: Expert listCreated: 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
Mode of inheritance for gene: KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Gene: kcnma1 has been classified as Green List (High Evidence).
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