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| Brain channelopathy v1.79 | KCNMA1 | Arina Puzriakova Mode of inheritance for gene: KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.78 | KCNMA1 | Sarah Leigh reviewed gene: KCNMA1: Rating: ; Mode of pathogenicity: None; Publications: 29545233, 27567911; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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