Primary immunodeficiency or monogenic inflammatory bowel disease
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 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