Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POLE2EnsemblGeneIds (GRCh38): ENSG00000100479
EnsemblGeneIds (GRCh37): ENSG00000100479
OMIM: 602670, Gene2Phenotype
POLE2 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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.
Sophie Hambleton (Newcastle University)
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
Details
- Mode of Inheritance
- 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
- OMIM
- 602670
- Clinvar variants
- Variants in POLE2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pole2 has been classified as Red List (Low Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: POLE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set penetrance
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)POLE2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)POLE2 was created by Louise Daugherty