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Details of Gene

Item Details
Gene/Locus name

RRM2B (also called p53R2)

Long Name

ribonucleotide reductase regulatory TP53 inducible subunit M2B (OMIM 604712)

Laboratories
Associated Disorders

OMIM 612075 : Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
OMIM 612075 : Mitochondrial DNA depletion syndrome 8B (MNGIE type)
OMIM 613077 : Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

6/12/2018