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| Skeletal muscle channelopathy v1.21 | SCN4A | Eleanor Williams commented on gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.19 | SCN4A | Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.18 | SCN4A | Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.17 | SCN4A | Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.16 | SCN4A | Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.17 | SCN4A | Louise Daugherty Publications for gene SCN4A were changed from to 18166706; 15534250; 19118277; 26700687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.15 | SCN4A | James Polke edited their review of gene: SCN4A: Changed publications: Miller et al 2004 Neurology 9, 1647-55 PMID: 15534250. Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Matthews et al 2008 Neurology 70, 50-3 PMID: 18166706. Zaharieva et al 2016 Brain 139, 674-91 PMID: 26700687; Changed phenotypes: Dominant: Hyperkalemic periodic paralysis (170500), Hypokalemic periodic paralysis, type 2 (613345), Paramyotonia congenita (168300). Recessive: Congenital myopathy. ; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.14 | SCN4A |
Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. for gene: SCN4A |
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| Skeletal muscle channelopathy v0.7 | SCN4A | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.7 | SCN4A | Louise Daugherty commented on gene: SCN4A: 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 | SCN4A | Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.5 | SCN4A | James Polke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.4 | SCN4A |
Louise Daugherty Source Expert Review Green was added to SCN4A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Skeletal muscle channelopathy v0.3 | SCN4A | Louise Daugherty Source NHS GMS was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.2 | SCN4A |
Louise Daugherty gene: SCN4A was added gene: SCN4A was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: SCN4A was set to |
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