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| Skeletal muscle channelopathy v1.12 | KCNA1 | Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.17 | KCNA1 | Louise Daugherty Publications for gene KCNA1 were changed from to 19770477; 17575281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.16 | KCNA1 | Louise Daugherty Source NHS GMS was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.15 | KCNA1 | James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: Rajakulendran et al 2009 Neurology 73, 993-5 PMID: 19770477. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281; Phenotypes: Episodic ataxia type 1/myokymia syndrome, 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.14 | KCNA1 |
Louise Daugherty Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Episodic ataxia type 1/myokymia syndrome, 160120 for gene: KCNA1 |
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| Skeletal muscle channelopathy v0.13 | KCNA1 |
Louise Daugherty Source Expert Review Green was added to KCNA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Skeletal muscle channelopathy v0.12 | KCNA1 |
Louise Daugherty gene: KCNA1 was added gene: KCNA1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: KCNA1 was set to |
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