Multiple monogenic benign skin tumours
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
Catherine Snow (Genomics England)
PMS2 is associated with Muir Torre. Clinical guidance from the Genomics England clinical team advised that as Muir Torre genes have been included on the panel PMS2 should also be added as a Amber gene.
Sources: Expert listCreated: 3 Dec 2019, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Muir-Torre syndrome, MONDO:0008018
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Haematological malignancies 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
- Inherited renal cancer
- COVID-19 research
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
24 Mar 2021, Gel status: 2
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018
3 Dec 2019, Gel status: 2
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: PMS2 were changed from to Muir Torre
3 Dec 2019, Gel status: 2
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: pms2 has been classified as Amber List (Moderate Evidence).
3 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: PMS2 was added gene: PMS2 was added to Multiple monogenic benign skin tumours. Sources: Expert list Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: PMS2 was set to AMBER