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Immunological disorders_SuperPanel_PanelAppAustralia

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Combined immunodeficiency
  • Facial dysmorphism
  • Hypoglobulinaemia
  • Autoimmunity
  • Recurrent infections, disseminated BCG infections
  • Lymphopaenia
  • Lack of TRECS, absent proliferation in response to antigens
OMIM
602670
Clinvar variants
Variants in POLE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: POLE2 was added gene: POLE2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Red,Expert list Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 26365386 Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Facial dysmorphism; Hypoglobulinaemia; Autoimmunity; Recurrent infections, disseminated BCG infections; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens