Renal cancer pertinent cancer susceptibility
Gene: PMS2
PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was added after request from Clare Turnbull (Cancer Clinical Team, Genomics England), and confirmed by Lara Hawkes (Cancer Clinical Team, Genomics England) that this addition is correct.Created: 20 Aug 2018, 1:28 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- Panels with this gene
-
- 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
- Inherited MMR deficiency (Lynch syndrome)
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Endocrine neoplasia
- Pigmentary skin disorders
- Bladder cancer pertinent cancer susceptibility
- Inherited renal cancer
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Intellectual disability
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: This gene was added after requ
27 Jul 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PMS2 was added to Renal cancer pertinent cancer susceptibility panel. Sources: Expert Review Green,Expert list
27 Jul 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)PMS2 was created by Ellen McDonagh