GI tract tumours

Gene: POLD1

Green List (high evidence)

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 15 panels

5 reviews

Ivone Leong (Genomics England Curator)

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, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

I don't know

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen Thomas (Genomics England Curator)

Comment on list classification: Expert review plus literature support.
Created: 28 Feb 2016, 3:46 p.m.

History Filter Activity

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to POLD1. Source NHS GMS was added to POLD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLD1 were set to {Colorectal cancer, susceptibility to, 10} 612591

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLD1 were set to 26133394

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLD1 was added to GI tractpanel. Source: Expert Review

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLD1 was added to GI tractpanel. Sources: Expert list,Expert Review Green

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLD1 was created by ellenmcdonagh