COVID-19 research
Gene: POLE2In OMIM and Gene2Phenotype this gene is not associated with any disorders. Expert reviewer (SH) lists publication Frugoni et al. (2016)(PMID: 26365386) which reports a 5-year-old male born to related parents of Saudi origin with with combined immunodeficiency, facial dysmorphisms, and autoimmunity. The patient was found by whole exome sequencing to have a homozygous splice-site mutation in the POLE2 gene. This variant has not been previously reported in dbSNP or 1000Genome. Both parents were heterozygous for the mutation.Created: 5 Jul 2018, 4:18 p.m.
Single patient, consanguineous kindredCreated: 30 Jun 2018, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency with facial dysmorphism
Publications
Source Expert Review Green was added to POLE2. Added 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 for gene: POLE2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: POLE2 was added gene: POLE2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 32086639; 32048120 Phenotypes for gene: POLE2 were set to 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