This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
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
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: DNA polymerases (catalytic subunits)
- Activity: NER and MMR
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Familial diabetes
- Adult solid tumours cancer susceptibility
- Lipodystrophy - childhood onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: changed gene symbol to approve
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POLD1 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)POLD1 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database