Inherited pancreatic cancer

Gene: PMS2

Amber List (moderate evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 35 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Created: 3 Mar 2021, 2:40 p.m. | Last Modified: 3 Mar 2021, 2:40 p.m.
Panel Version: 1.14

Rachel Robinson (Leeds Genetics Laboratory)

I don't know

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

I don't know

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch Syndrome; CMMRD

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
OMIM
600259
Clinvar variants
Variants in PMS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831

15 Oct 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PMS2 were set to

30 Jan 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pms2 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PMS2 was added gene: PMS2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS Mode of inheritance for gene: PMS2 was set to