POLD2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POLD2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145

Amber POLD2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145
    • Low CD4 T cells
    • Low B cells, normal maturation
    • recurrent respiratory tract infections, skin infections, warts and molluscum
    • short stature
    • intellectual disability

    Red POLD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual disability
    • immunodeficiency