Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 | POLE | Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 | POLE | Arina Puzriakova Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | POLE | Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 | POLE | Ivone Leong Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 | POLE | Ivone Leong Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.35 | POLE | Ivone Leong Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLE | Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLE | Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | POLE |
Ivone Leong 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 |