This Panel is marked as Retired
Multiple Tumours
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, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Familial colon cancer
- Multiple bowel polyps
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- Complete
- Publications
-
- PMID: 26133394
- Panels with this gene
-
- Intellectual disability
- Monogenic diabetes
- 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 hearing loss
- Lipodystrophy - childhood onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POLD1 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)POLD1 was added to Multiple Tumourspanel. Sources: Expert Review Green