This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: POLE
POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels
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
-
- PMID: 26133394
- Panels with this gene
-
- GI tract tumours
- Adult solid tumours cancer susceptibility
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Congenital adrenal hypoplasia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
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