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Skeletal muscle channelopathy v1.11 | CLCN1 | Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.17 | CLCN1 | Louise Daugherty Publications for gene CLCN1 were changed from to 17932099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.15 | CLCN1 | James Polke edited their review of gene: CLCN1: Changed publications: Fialho et al 2007 Brain 130, 3265-74 PMID: 17932099; Changed phenotypes: Myotonia congenita, dominant, 160800, Myotonia congenita, recessive, 255700; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.14 | CLCN1 |
Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 for gene: CLCN1 |
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Skeletal muscle channelopathy v0.7 | CLCN1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.7 | CLCN1 | Louise Daugherty commented on gene: CLCN1: 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 | CLCN1 | Louise Daugherty reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.5 | CLCN1 | James Polke reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.4 | CLCN1 |
Louise Daugherty Source Expert Review Green was added to CLCN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Skeletal muscle channelopathy v0.3 | CLCN1 | Louise Daugherty Source NHS GMS was added to CLCN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.2 | CLCN1 |
Louise Daugherty gene: CLCN1 was added gene: CLCN1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CLCN1 was set to |