Primary immunodeficiencyGene: POLE2
In 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 kindred
Created: 30 Jun 2018, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
combined immunodeficiency with facial dysmorphism
Source IUIS Classification December 2019 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 for gene: POLE2 Publications for gene POLE2 were updated from to 32048120; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: pole2 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: POLE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
POLE2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
POLE2 was created by Louise Daugherty