Inherited pancreatic cancer
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 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)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
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
-
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Inherited MMR deficiency (Lynch syndrome)
- Inherited renal cancer
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Intellectual disability
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Endocrine neoplasia
- COVID-19 research
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Fetal anomalies
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: PMS2 were set to
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pms2 has been classified as Amber List (Moderate Evidence).
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