Inherited polyposis and early onset colorectal cancer - germline testing
Gene: POLEComment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336)Created: 8 Mar 2021, 10:28 a.m. | Last Modified: 8 Mar 2021, 10:28 a.m.
Panel Version: 1.17
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.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer
Comment on list classification: Expert review plus literature evidenceCreated: 28 Feb 2016, 3:48 p.m.
Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083
Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE
Gene: pole has been classified as Green List (High Evidence).
Gene: pole has been classified as Green List (High Evidence).
Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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