This Panel is marked as Retired
Multiple bowel polyps
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Transferred from familial colorectal cancer panel.Created: 28 Feb 2016, 3:54 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Familial polyposis and colon cancer
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- Complete
- Publications
-
- PMID: 26133394
- Panels with this gene
-
- Inherited polyposis and early onset colorectal cancer - germline testing
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- 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
- Fetal anomalies
History Filter Activity
28 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Feb 2016, Gel status: 0
Created
Ellen Thomas (Genomics England Curator)POLD1 was created by EllenThomas
28 Feb 2016, Gel status: 0
Added New Source
Ellen Thomas (Genomics England Curator)POLD1 was added to Multiple bowel polypspanel. Sources: Expert Review