Autoinflammatory 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
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 12 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
- OMIM
- 610924
- Clinvar variants
- Variants in RBCK1
- Penetrance
- None
- Publications
- Panels with this gene
-
- COVID-19 research
- Undiagnosed metabolic disorders
- Autoinflammatory disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Congenital myopathy
- Arthrogryposis
- Glycogen storage disease
History Filter Activity
19 Jan 2022, Gel status: 3
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to RBCK1.
11 Jan 2022, Gel status: 3
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 Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 610924; 23104095; 29260357 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895