1. Panels
  2. Inherited polyposis and early onset colorectal cancer - germline testing
  3. POLE
STRs in panel
Prev Next
Regions in panel
Prev Next

Inherited polyposis and early onset colorectal cancer - germline testing

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

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336)
Created: 8 Mar 2021, 10:28 a.m. | Last Modified: 8 Mar 2021, 10:28 a.m.
Panel Version: 1.17
Created: 8 Mar 2021, 10:28 a.m.
Last Modified: 8 Mar 2021, 10:28 a.m.
Panel version: 1.17

Ivone Leong (Genomics England Curator)

Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated green.
Created: 1 Feb 2019, 10:09 a.m.
Created: 1 Feb 2019, 10:09 a.m.

Panel version: 0.47

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Created: 30 Jan 2019, 9:44 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

I don't know

Created: 30 Jan 2019, 9:44 a.m.

Panel version: 0.3

Ian Frayling (Cardiff University)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:48 a.m.

Panel version: Imported from Inherited colorectal cancer (with or without polyposis) panel version Imported from "Familial colon cancer" panel version 0

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

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

Phenotypes
Colorectal cancer

Created: 5 Jul 2017, 12:19 p.m.

Panel version: Imported from Adult solid tumours pertinent cancer susceptibility panel version 0.2

Ellen Thomas (Genomics England Curator)

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

Panel version: Imported from Inherited colorectal cancer (with or without polyposis) panel version Imported from "Familial colon cancer" panel version 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • {Colorectal cancer, susceptibility to, 12}, OMIM:615083
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE

1 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pole has been classified as Green List (High Evidence).

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pole has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: POLE was added gene: POLE was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: POLE was set to