Familial rhabdomyosarcoma
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
1 review
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
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mismatch repair cancer syndrome, 276300
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- 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)
- Fetal anomalies
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited ovarian cancer (without breast cancer)
- DDG2P
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PMS2 were set to Mismatch repair cancer syndrome, 276300
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PMS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)PMS2 was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)PMS2 was created by Louise Daugherty