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Inborn errors of metabolism

Gene: RBCK1

Green List (high evidence)

RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 8 panels

2 reviews

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: 6 Feb 2017, 3:56 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency 615895
OMIM
610924
Clinvar variants
Variants in RBCK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RBCK1 was added gene: RBCK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23889995; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895