Endocrine neoplasia
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 2 Feb 2023, noon | Last Modified: 2 Feb 2023, noon
Panel Version: 2.2
Ivone Leong (Genomics England Curator)
This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.
This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert ReviewCreated: 16 Feb 2021, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert Review
- 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
- Intellectual disability
- DDG2P
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
- 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)
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: PMS2. Tag Q2_21_phenotype was removed from gene: PMS2. Tag Q2_21_expert_review was removed from gene: PMS2. Tag Q2_21_NHS_review was removed from gene: PMS2.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: PMS2.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: PMS2. Tag Q2_21_NHS_review tag was added to gene: PMS2.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pms2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PMS2 was added gene: PMS2 was added to Endocrine neoplasms. Sources: Expert Review Q2_21_phenotype tags were added to gene: PMS2. Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PMS2 was set to AMBER