RMRP - Gene browser

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

HCNC Approved Symbol: RMRP (HGNC:10031)
Genomic Coordinates: 9:35,657,750 - 35,658,019 (9p13.3)
Synonyms: RMRPR, RRP2, NME1, CHH
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the RMRP gene.

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

010
Patient count

Immunodeficiency: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Icthyosis, generalized: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Recurrent infections: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Ichthyosis: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Severe failure to thrive: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)