Colorectal cancer pertinent cancer susceptibility

Gene: POLE

Green List (high evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Colorectal tumour type.
Created: 26 Jul 2017, 10:57 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on list classification

26 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POLE was added to Colorectal cancerpanel. Sources: Expert list

19 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLE was created by ellenmcdonagh