POLD1

1 article(s) in the watch · Constitutional genetics

POLD1 encodes the catalytic subunit of DNA polymerase delta. Proofreading-domain variants cause polymerase proofreading-associated polyposis.

InheritanceAutosomal dominant

Clinical spectrumPolyposis, colorectal and endometrial cancer

ManagementClose surveillance colonoscopy; endometrial surveillance.

Curated publications

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Huntington's disease — genetic modifiers of age at onset

How is a POLD1-related condition inherited?+

Autosomal dominant

What is the clinical spectrum associated with POLD1?+

Polyposis, colorectal and endometrial cancer

What is the management associated with POLD1?+

Close surveillance colonoscopy; endometrial surveillance.

How many Geno'X publications cover the POLD1 gene?+

1 publication(s) on POLD1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).