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Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova Tag Q2_21_rating was removed from gene: PYGM.
Tag Q2_21_phenotype was removed from gene: PYGM.
Tag Q2_21_expert_review was removed from gene: PYGM.
Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova commented on gene: PYGM
Skeletal muscle channelopathy v1.39 PYGM Eleanor Williams Tag Q2_21_rating tag was added to gene: PYGM.
Tag Q2_21_expert_review tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.31 PYGM Eleanor Williams Tag Q2_21_rating was removed from gene: PYGM.
Skeletal muscle channelopathy v1.31 PYGM Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. This gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.
Skeletal muscle channelopathy v1.30 PYGM Eleanor Williams Tag Q2_21_phenotype tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel.; to: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Classified gene: PYGM as Green List (high evidence)
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Added comment: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel.
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Gene: pygm has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.25 PYGM Eleanor Williams Tag Q2_21_rating tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.13 PYGM Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Skeletal muscle channelopathy v1.4 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease, 232600; Mode of inheritance: None
Skeletal muscle channelopathy v0.17 PYGM Louise Daugherty Publications for gene PYGM were changed from to 21880526
Skeletal muscle channelopathy v0.16 PYGM Louise Daugherty Source NHS GMS was added to PYGM.
Skeletal muscle channelopathy v0.15 PYGM James Polke reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: Wu et al 2011 Mol Genet Metab 104, 587-91 PMID: 21880526; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.14 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes McArdle disease, 232600 for gene: PYGM
Skeletal muscle channelopathy v0.13 PYGM Louise Daugherty Source Expert Review Green was added to PYGM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.12 PYGM Louise Daugherty gene: PYGM was added
gene: PYGM was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: PYGM was set to