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Skeletal muscle channelopathy v1.7 | KCNJ2 | Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.17 | KCNJ2 | Louise Daugherty Publications for gene KCNJ2 were changed from to 16217063; 12796536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.15 | KCNJ2 | James Polke edited their review of gene: KCNJ2: Changed publications: Davies et al 2005 Neurology 11, 1083-9 PMID: 16217063. Donaldson et al 2003 Neurology 10, 1811-6 PMID: 12796536; Changed phenotypes: Andersen syndrome, 170390; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.14 | KCNJ2 |
Louise Daugherty Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Andersen syndrome, 170390 for gene: KCNJ2 |
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Skeletal muscle channelopathy v0.7 | KCNJ2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.7 | KCNJ2 | Louise Daugherty commented on gene: KCNJ2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.6 | KCNJ2 | Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.5 | KCNJ2 | James Polke reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.4 | KCNJ2 |
Louise Daugherty Source Expert Review Green was added to KCNJ2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Skeletal muscle channelopathy v0.3 | KCNJ2 | Louise Daugherty Source NHS GMS was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.2 | KCNJ2 |
Louise Daugherty gene: KCNJ2 was added gene: KCNJ2 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: KCNJ2 was set to |