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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 | SCN4A | Ellen McDonagh Marked gene: SCN4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 | SCN4A | Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 | SCN4A | Ellen McDonagh Classified gene: SCN4A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 | SCN4A | Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 | SCN4A | Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | SCN4A | Chiara Marini Bettolo edited their review of gene: SCN4A: Added comment: muscle channelopathy. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | SCN4A | Louise Daugherty Source NHS GMS was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | SCN4A | Louise Daugherty Source Yorkshire and North East GLH was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.60 | SCN4A | Louise Daugherty Phenotypes for gene: SCN4A were changed from Hyperkalemic periodic paralysis, type 2, 170500 to Hyperkalemic periodic paralysis, type 2, 170500; Hyperkalemic periodic paralysis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | SCN4A | Chiara Marini Bettolo reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | SCN4A |
Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500 for gene: SCN4A Publications for gene SCN4A were changed from to 1651050; 1659948 |
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | SCN4A | Ana Topf reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis, type 2, 170500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | SCN4A |
Louise Daugherty gene: SCN4A was added gene: SCN4A was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SCN4A was set to |