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  3. POLE
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Endometrial Cancer

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. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert Review
Created: 18 Sep 2024, 11:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 18 Sep 2024, 11:22 p.m.

Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287
  • POLE-associated polyposis, MIM#615083
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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).

18 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).

18 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: POLE was added gene: POLE was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083 Mode of pathogenicity for gene: POLE was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: POLE was set to GREEN