1. Genes and Genomic Entities
  2. POLE2

POLE2

DNA polymerase epsilon 2, accessory subunit
OMIM: 602670, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green POLE2 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism)
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
Red POLE2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism)
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
  • Combined immunodeficiencies with associated or syndromic features