Rhabdomyolysis and metabolic muscle disorders
Gene: RBCK1

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

3 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Phenotypes
RBCK1 deficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:14 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 8 variants reported
Created: 4 Jan 2017, 12:27 p.m.

Created: 4 Jan 2017, 12:27 p.m.

Panel version: 0.95

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
malignant hyperthermia

Created: 4 Jan 2017, 11:20 a.m.

Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

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

OMIM

610924

Clinvar variants

Variants in RBCK1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895

18 Jul 2017, Gel status: 4