POLRMT - Gene browser | 3billion

POLRMT

POLRMT

RNA polymerase mitochondrial

HCNC Approved Symbol: POLRMT (HGNC:9200)
Genomic Coordinates: 19:617,221 - 633,537 (19p13.3)
Synonyms: h-mtRPOL, APOLMT, MTRNAP, MTRPOL
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the POLRMT gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Dysmorphic facies: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Global developmental delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Speech delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

POLRMT - Gene browser | 3billion