Inherited polyposis and early onset colorectal cancer - germline testing
Gene: POLD1Comment on phenotypes: This gene is also associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MIM# 615381)Created: 8 Mar 2021, 10:24 a.m. | Last Modified: 8 Mar 2021, 10:24 a.m.
Panel Version: 1.16
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.Created: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
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, NOT imprinted
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer; Endometrial cancer
Comment on list classification: Expert review plus literature support.Created: 28 Feb 2016, 3:46 p.m.
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
Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1
Gene: pold1 has been classified as Green List (High Evidence).
Gene: pold1 has been classified as Green List (High Evidence).
Gene: pold1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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