Tumour predisposition - adult onset
Gene: PMS2EnsemblGeneIds (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, imprinted status unknown
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- CMMRD
- Lynch Syndrome
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Intellectual disability
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- DDG2P
- Inherited MMR deficiency (Lynch syndrome)
- Fetal anomalies
- Pigmentary skin disorders
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Bladder cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Inherited renal cancer
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- 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
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Brain, CNS, and PNS Cancer for gene: PMS2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PMS2 was added gene: PMS2 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMS2 were set to CMMRD; Lynch Syndrome