GI tract tumours

Gene: POLE

Green List (high evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 7 panels

5 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

I don't know

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Ellen Thomas (Genomics England Curator)

Comment on list classification: Expert review plus literature evidence
Created: 28 Feb 2016, 3:48 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • {Colorectal cancer, susceptibility to, 12} 615083 AD
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to POLE. Source NHS GMS was added to POLE. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLE were set to {Colorectal cancer, susceptibility to, 12} 615083 AD

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLE were set to 26133394

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLE was added to GI tractpanel. Source: Expert Review

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLE was added to GI tractpanel. Sources: Expert list,Expert Review Green

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLE was created by ellenmcdonagh