Rhabdomyolysis and metabolic muscle disorders

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 11 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

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.

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
malignant hyperthermia

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 615895
OMIM
610924
Clinvar variants
Variants in RBCK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jul 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RBCK1 were set to 23104095; 23889995; 23798481; 25041762

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Jan 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RBCK1 were set to 23104095; 23889995

4 Jan 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for RBCK1 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

RBCK1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RBCK1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RBCK1 was created by sleigh