Colorectal Cancer and 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 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287
  • POLE-associated polyposis, MIM#615083
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: POLE was added gene: POLE was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: POLE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLE were set to POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083 Review for gene: POLE was set to GREEN