Gastrointestinal neuromuscular disease
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 15 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported with this phenotype, likely represents a continuum for a mitochondrial disorder rather than a separate entity.Created: 3 Mar 2022, 6:43 a.m. | Last Modified: 3 Mar 2022, 6:43 a.m.
Panel Version: 0.11115
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Publications
Ain Roesley (Victorian Clinical Genetics Services)
Genereviews:
>50 families reportedCreated: 21 Feb 2022, 3:52 a.m. | Last Modified: 21 Feb 2022, 3:52 a.m.
Panel Version: 0.11011
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bryony Thompson (Royal Melbourne Hospital)
Gastrointestinal disturbances have been reported in 6/31 cases with adult onset cases with biallelic and monoallelic variants.
Sources: Expert listCreated: 2 Jul 2020, 6:58 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#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
Bryony Thompson (Royal Melbourne Hospital)Gene: rrm2b has been classified as Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rrm2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RRM2B was added gene: RRM2B was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 19667227; 23107649 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077 Review for gene: RRM2B was set to GREEN