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| Acute rhabdomyolysis v0.6 | RBCK1 | Arina Puzriakova commented on gene: RBCK1: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.3 | PRKAG2 | Arina Puzriakova changed review comment from: RBCK1 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis.; to: PRKAG2 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.3 | RBCK1 | Arina Puzriakova reviewed gene: RBCK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35017290, 23889995, 23798481, 23104095, 25041762; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | RBCK1 |
Arina Puzriakova gene: RBCK1 was added gene: RBCK1 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23889995; 23104095; 25041762; 35017290 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 |
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