Congenital ophthalmoplegia
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 15 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
Neonatal onset. Ophthalmoplegia and ptosis are common features.
Sources: LiteratureCreated: 2 Dec 2020, 12:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Renal Tubulopathies and related disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rrm2b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rrm2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: RRM2B was added gene: RRM2B was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to PMID: 17486094; 19138848; 24741716; 31462754 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077 Review for gene: RRM2B was set to GREEN