Multiple bowel polyps

Gene: POLE

Green List (high evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Transferred from familial colon cancer panel
Created: 28 Feb 2016, 3:55 p.m.

Details

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

History Filter Activity

28 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Feb 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

POLE was created by EllenThomas

28 Feb 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

POLE was added to Multiple bowel polypspanel. Sources: Expert Review