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STRs in panel
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Primary immunodeficiency

Gene: POLE2

Red List (low evidence)

POLE2 (DNA polymerase epsilon 2, accessory subunit)
EnsemblGeneIds (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)

Red List (low evidence)

Single patient, consanguineous kindred
Created: 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

28 Feb 2020, Gel status: 1

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

12 Jul 2018, Gel status: 1

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pole2 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: POLE2 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 1

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

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

POLE2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

POLE2 was created by Louise Daugherty