This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Colorectal cancer
- Endometrial cancer
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Inherited polyposis and early onset colorectal cancer - germline testing
- DDG2P
- Monogenic hearing loss
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Fetal anomalies
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Familial diabetes
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: POLD1 was added gene: POLD1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLD1 were set to Colorectal cancer; Endometrial cancer