Sarcoma 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
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome, 276300
Helen Brittain (Genomics England Curator)
Constitutional mismatch repair deficiency is associated with a wide range of tumour types. Rhabdomyosarcoma is reported, however infrequently. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome, 276300
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert Review Amber
- Phenotypes
-
- Mismatch repair cancer syndrome, 276300
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Intellectual disability
- 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
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
13 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PMS2 was added gene: PMS2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300