Inherited polyposis

Gene: POLE

Green List (high evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 9 panels

6 reviews

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.

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

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

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, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • {Colorectal cancer, susceptibility to, 12} 615083 AD
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Panels with this gene

History Filter Activity

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