This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- short stature
- intellectual disability
- Low CD4 T cells
- Low B cells, normal maturation
- recurrent respiratory tract infections, skin infections, warts and molluscum
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- GI tract tumours
- Familial diabetes
- Adult solid tumours cancer susceptibility
- Lipodystrophy - childhood onset
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Monogenic hearing loss
History Filter Activity
7 Apr 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: POLD1 was added gene: POLD1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 31629014 Phenotypes for gene: POLD1 were set to short stature; intellectual disability; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum