Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |