Inherited polyposis and early onset colorectal cancer - germline testing
Gene: POLD1EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels
7 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
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, 12:34 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.
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Ian Frayling (Cardiff University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clare Turnbull (Queen Mary University London)
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Expert review plus literature support.Created: 28 Feb 2016, 3:46 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert List
- Phenotypes
-
- {Colorectal cancer, susceptibility to, 10}, OMIM:612591
- Colorectal cancer, susceptibility to, 10, MONDO:0012953
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- COVID-19 research
- Familial diabetes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Lipodystrophy - childhood onset
- Monogenic hearing loss
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pold1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pold1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pold1 has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)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