Endometrial Cancer

Gene: PMS2

Green List (high evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 16 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Endometrial cancers reported in condition.

Note: there is a high level of homology between PMS2 and pseudogenes
Sources: Expert list, Expert Review
Created: 18 Sep 2024, 11:20 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Endometrial cancer, MONDO:0011962; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 4, MONDO:0013699
  • Mismatch repair cancer syndrome 4, MONDO:0030843
  • Lynch syndrome 4, MIM#614337
  • Mismatch repair cancer syndrome 4, MIM#619101
OMIM
600259
Clinvar variants
Variants in PMS2
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pms2 has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pms2 has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: PMS2 was added gene: PMS2 was added to Endometrial Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Endometrial cancer, MONDO:0011962; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101 Review for gene: PMS2 was set to GREEN