POLE2:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red POLE2 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined immunodeficiency MONDO:0015131, POLE2-related

Red POLE2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Combined immunodeficiency MONDO:0015131, POLE2-related

    Red POLE2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • Combined immunodeficiency MONDO:0015131, POLE2-related