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Skeletal muscle channelopathy v1.21 | CACNA1S | Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.20 | CACNA1S | Eleanor Williams commented on gene: CACNA1S | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.10 | CACNA1S | Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.17 | CACNA1S | Louise Daugherty Publications for gene CACNA1S were changed from to 28012042; 19118277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.15 | CACNA1S | James Polke edited their review of gene: CACNA1S: Changed publications: Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Schartner et al 2017 Acta Neuropathol 133, 517-533 PMID: 28012042; Changed phenotypes: Hypokalaemic periodic paralysis, type I, 170400 (Dominant), Congenital myopathy (Dominant & recessive); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.14 | CACNA1S |
Louise Daugherty Mode of inheritance for gene CACNA1S was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) for gene: CACNA1S |
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Skeletal muscle channelopathy v0.7 | CACNA1S | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.7 | CACNA1S | Louise Daugherty commented on gene: CACNA1S: 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 | CACNA1S | Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.5 | CACNA1S | James Polke reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.4 | CACNA1S |
Louise Daugherty Source Expert Review Green was added to CACNA1S. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Skeletal muscle channelopathy v0.3 | CACNA1S | Louise Daugherty Source NHS GMS was added to CACNA1S. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.2 | CACNA1S |
Louise Daugherty gene: CACNA1S was added gene: CACNA1S was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CACNA1S was set to |