Adult solid tumours for rare disease
Gene: POLD1
POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels
1 review
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Colorectal cancer
- Endometrial cancer
- 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)
- COVID-19 research
- Familial diabetes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Monogenic diabetes
- 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
- Intellectual disability
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)POLD1 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)POLD1 was created by Ellen McDonagh