Pancreatic Cancer
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Pancreatic cancer reported in condition.
Note: there is a high level of homology between PMS2 and pseudogenes.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 9:19 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Malignant pancreatic neoplasm, MONDO:0009831; 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
-
- Malignant pancreatic neoplasm, MONDO:0009831
- 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
-
- Combined Immunodeficiency
- Additional findings_Adult
- Prostate Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pms2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pms2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PMS2 was added gene: PMS2 was added to Pancreatic 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 Malignant pancreatic neoplasm, MONDO:0009831; 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