COVID-19 research
Gene: POLD1
IUIS gene. Biallelic missense variant p.R1060C, that impairs association between POLD1 and POLD2, was associated with combined immunodeficiency in 3 affected members of one kindred. An unrelated case of combined immunodeficiency reported elsewhere (PMID 31449058) had 3 rare missense variants. Allelic AD disorders cause alternative phenotypesCreated: 1 May 2020, 11:44 a.m. | Last Modified: 1 May 2020, 12:11 p.m.
Panel Version: 0.171
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency; T-cell lymphopenia; recurrent infections; hypogammaglobulinaemia
Mode of pathogenicity
Other
Source Expert Review Green was added to POLD1. Added phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency for gene: POLD1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: POLD1 was added gene: POLD1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 31449058; 32086639; 32048120; 31629014 Phenotypes for gene: POLD1 were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency