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Inherited polyposis v1.16 POLD1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MIM# 615381)
Inherited polyposis v1.16 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10} 612591 to {Colorectal cancer, susceptibility to, 10}, OMIM:612591; Colorectal cancer, susceptibility to, 10, MONDO:0012953
Inherited polyposis v0.50 POLD1 Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1
Inherited polyposis v0.48 POLD1 Ivone Leong commented on gene: POLD1: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited polyposis v0.46 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis v0.46 POLD1 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 v0.46 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis v0.39 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis v0.39 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis v0.38 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis v0.38 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis v0.34 POLD1 Ivone Leong Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis v0.3 POLD1 Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis v0.3 POLD1 Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis v0.2 POLD1 Ivone Leong gene: POLD1 was added
gene: POLD1 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: POLD1 was set to