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| Glycogen Storage Diseases v0.17 | RBCK1 | Zornitza Stark Marked gene: RBCK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen Storage Diseases v0.17 | RBCK1 | Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen Storage Diseases v0.4 | RBCK1 | Bryony Thompson Classified gene: RBCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen Storage Diseases v0.4 | RBCK1 | Bryony Thompson Gene: rbck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen Storage Diseases v0.3 | RBCK1 |
Bryony Thompson gene: RBCK1 was added gene: RBCK1 was added to Glycogen Storage Diseases. Sources: Expert list Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Review for gene: RBCK1 was set to GREEN Added comment: Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported. Sources: Expert list |
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