Peutz-Jeghers syndrome

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial colorectal polyposis and cancer
  • Familial polyposis and colon cancer
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLE was added to Peutz-Jeghers syndromepanel. Source: Expert Review

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLE was added to Peutz-Jeghers syndromepanel. Sources: Expert list,Expert Review Green

3 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLE was created by ellenmcdonagh