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Brain channelopathy v1.57 KCNMA1 Arina Puzriakova 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
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Classified gene: KCNMA1 as Green List (high evidence)
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Added comment: 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.
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Gene: kcnma1 has been classified as Green List (High Evidence).
Brain channelopathy v1.55 KCNMA1 Zornitza Stark 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
Added comment: Potassium channel gene which is associated with several phenotypes, including paroxysmal dyskinesia in at least three unrelated families.
Sources: Expert list