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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