Bladder 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
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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
-
- 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
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Intellectual disability
- 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)
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
27 Jul 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PMS2 was added to Bladder 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