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COVID-19 research

Gene: POLE

Green List (high evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 9 panels

3 reviews

Sophie Hambleton (Newcastle University)

I don't know

Only one family described
Created: 29 Jun 2018, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotypes in OMIM and as a probable Gen2Phen gene for {Colorectal cancer, susceptibility to, 12} 615083. At least 1 variant identified in affected members of a single family with FILS syndrome 615139. Supportive in vitro studies also presented (PMID 23230001)
Created: 9 May 2018, 12:57 p.m.
Comment on phenotypes: Autosomal dominant variants also associated with {Colorectal cancer, susceptibility to, 12} 615083.
Created: 9 May 2018, 12:41 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Keep Amber until more info on gene and disease association regarding immunological phenotype. Only one family reported but with supportive in vitro studies . Request evidences from GRID and Victorian Clinical Genetics Services
Created: 4 Jul 2018, 5:55 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): POLE .PanelApp HGNC gene symbol check: POLE . IUIS Disease: POLE1 (Polymerase _ subunit 1) deficiency (FILS syndrome) . IUIS Inheritance: AR .T cells: Low CD4 cells, .B cells: Low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature . IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: POLE1, PanelApp HGNC gene symbol check: POLE, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / FILS syndrome / Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: POLE, GRID_Gene_Symbol: POLE, GRID_Transcript_ENS_Community submitted: ENST00000320574, GRID_Transcript_RefSeq: NM_006231.3, GRID_Transcript_ENS_used_on_Production: ENST00000320574
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
  • Combined immunodeficiencies with associated or syndromic features
  • FILS syndrome 615139
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to POLE. Added phenotypes Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) for gene: POLE Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: POLE was added gene: POLE was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)