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  2. Combined Immunodeficiency
  3. POLE2
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Combined 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with homozygous splice site variant.
Sources: Expert list
Created: 3 Apr 2020, 8:31 a.m. | Last Modified: 3 Apr 2020, 8:32 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism

Publications

Created: 3 Apr 2020, 8:31 a.m.
Last Modified: 3 Apr 2020, 8:32 a.m.
Panel version: 0.61

Details

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

History Filter Activity

3 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLE2 was added gene: POLE2 was added to Combined Immunodeficiency. Sources: 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; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism Review for gene: POLE2 was set to RED