3billion
back to listBack to List

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

HCNC Approved Symbol
RRM2B (HGNC:17296)
Genomic Coordinates
8:102,204,501 - 102,238,961 (8q22.3)
Synonyms
p53R2
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
612075AR
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
612075AR
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
613077AD
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
268315AR

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the RRM2B gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Myopathy
 3 (60.0%)
Ophthalmoplegia
 2 (40.0%)
Bilateral ptosis
 1 (20.0%)
Dyslipidemia
 1 (20.0%)
Idiopathic thrombocytopenia
 1 (20.0%)