Sarcoma soft tissue

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. Soft-tissue sarcomas reported in condition.

Note: there is a high level of homology between PMS2 and pseudogenes
Sources: Expert list, Expert Review
Created: 17 Sep 2024, 10:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 4, MONDO:0030843; Mismatch repair cancer syndrome 4, MIM#619101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Mismatch repair cancer syndrome 4, MONDO:0030843
  • 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).

17 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).

17 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 Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 4, MONDO:0030843; Mismatch repair cancer syndrome 4, MIM#619101 Review for gene: PMS2 was set to GREEN