PMS2 - Gene browser

PMS2

PMS1 homolog 2, mismatch repair system component

HCNC Approved Symbol: PMS2 (HGNC:9122)
Genomic Coordinates: 7:5,970,925 - 6,009,106 (7p22.1)
Synonyms: H_DJ0042M02.9, HNPCC4, MLH4, PMS-2, PMSL2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the PMS2 gene.

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

018
Patient count

Left ventricular hypertrophy: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Neoplasm: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Paraganglioma: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Limited peripheral vision: 1 (5.6%)
Patient Count: 1 (5.6%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.6%)
Nyctalopia: 1 (5.6%)
Patient Count: 1 (5.6%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.6%)