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Acute rhabdomyolysis

Gene: RBCK1

Amber List (moderate evidence)
RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 12 panels

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

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.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
RBCK1 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Metabolic muscle disorder including accumulation of polyglucosan in muscle, skeletal muscle weakness and exercise intolerance but can not find clear evidence of acute rhabdomyolysis in literature.
Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895

Publications

Created: 19 Jan 2022, 5:51 p.m.
Last Modified: 19 Jan 2022, 5:51 p.m.
Panel version: 0.6

History Filter Activity

19 Jan 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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