Adult solid tumours for rare disease
Gene: POLE
POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Colorectal cancer
- OMIM
- 174762
- Clinvar variants
- Variants in POLE
- Penetrance
- None
- Panels with this gene
-
- GI tract tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult solid tumours cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- COVID-19 research
- Congenital adrenal hypoplasia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)POLE was added to Adult solid tumours for rare disease panel. Sources: Expert list,Expert Review Green
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)POLE was created by Ellen McDonagh