Mitochondrial disease
Gene: RNF213EnsemblGeneIds (GRCh38): ENSG00000173821
EnsemblGeneIds (GRCh37): ENSG00000173821
OMIM: 613768, Gene2Phenotype
RNF213 is in 5 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.
Sources: LiteratureCreated: 7 Dec 2023, 2:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Moyamoya disease, MONDO:0016820
- pediatric arterial ischemic stroke, MONDO:0018585
- OMIM
- 613768
- Clinvar variants
- Variants in RNF213
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rnf213 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rnf213 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rnf213 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: RNF213 was added gene: RNF213 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF213 were set to 37924258 Phenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585 Review for gene: RNF213 was set to GREEN