Glycogen storage disease
Gene: RBCK1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:13 a.m. | Last Modified: 1 Feb 2023, 10:13 a.m.
Panel Version: 1.10
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.Created: 2 Mar 2021, 1:39 p.m. | Last Modified: 2 Mar 2021, 1:39 p.m.
Panel Version: 1.5
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 2 Mar 2021, 1:34 p.m. | Last Modified: 2 Mar 2021, 1:34 p.m.
Panel Version: 1.5
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 listCreated: 19 Jul 2020, 11:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: RBCK1.
Source Expert Review Green was added to RBCK1. Source NHS GMS was added to RBCK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Tag Q2_21_rating tag was added to gene: RBCK1.
Gene: rbck1 has been classified as Amber List (Moderate Evidence).
gene: RBCK1 was added gene: RBCK1 was added to Glycogen storage disease. 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 gene: RBCK1 was marked as current diagnostic