POLD2

DNA polymerase delta 2, accessory subunit
OMIM: 600815, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POLD2 in Mendeliome


Version 2.0

2 reviews 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 2.0

2 reviews 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 2.0

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