RRM2B - Gene browser

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.

5Patients

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

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

05
Patient count

Myopathy: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Ophthalmoplegia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Bilateral ptosis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Dyslipidemia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Idiopathic thrombocytopenia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)