1. Genes and Genomic Entities
  2. POLD2

POLD2

DNA polymerase delta 2, accessory subunit
OMIM: 600815, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green POLD2 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Polymerase d 2 deficiency
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
Red POLD2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
Phenotypes
  • Polymerase d 2 deficiency
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
  • Immunodeficiencies affecting cellular and humoral immunity
  • Low CD4 T cells
  • Low B cells, normal maturation