PanelApp (staging)
  1. Genes and Genomic Entities
  2. POLE2

POLE2

DNA polymerase epsilon 2, accessory subunit
OMIM: 602670, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red POLE2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined immunodeficiency
  • Lymphopaenia
  • Lack of TRECS, absent proliferation in response to antigens
  • Hypoglobulinaemia
  • Recurrent infections, disseminated BCG infections
  • Autoimmunity
  • Facial dysmorphism

Red POLE2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Combined immunodeficiency
    • Lymphopaenia
    • Lack of TRECS, absent proliferation in response to antigens
    • Hypoglobulinaemia
    • Recurrent infections, disseminated BCG infections
    • Autoimmunity
    • Facial dysmorphism