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COVID-19 research

Gene: POLR3F

Green List (high evidence)
POLR3F (RNA polymerase III subunit F)
EnsemblGeneIds (GRCh38): ENSG00000132664
EnsemblGeneIds (GRCh37): ENSG00000132664
OMIM: 617455, Gene2Phenotype
POLR3F is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

May contribute to viral susceptibility in a non-Mendelian way
Created: 1 May 2020, 12:17 p.m. | Last Modified: 1 May 2020, 12:17 p.m.
Panel Version: 0.171
Created: 1 May 2020, 12:17 p.m.
Last Modified: 1 May 2020, 12:17 p.m.
Panel version: 0.171

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under the Predisposition to severe viral infection section. Inheritance: AD. Affects Leukocytes and other cells and causes impaired viral recognition and IFN induction in response to VZVor poly I:C. The associated features is severe VZV infection.
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Defects in intrinsic and innate immunity; Predisposition to severe viral infection; RNA polymerase III deficiency

Publications

Created: 15 Apr 2020, 12:09 p.m.
Last Modified: 15 Apr 2020, 12:09 p.m.
Panel version: 0.103

Rebecca Foulger (Genomics England curator)

Added POLR3F to panel based on presence on VCGS 'Susceptibility to Viral Infections' panel V0.22: https://panelapp.agha.umccr.org/panels/237/
Created: 9 Apr 2020, 4:17 p.m. | Last Modified: 9 Apr 2020, 4:17 p.m.
Panel Version: 0.76
Created: 9 Apr 2020, 4:17 p.m.
Last Modified: 9 Apr 2020, 4:17 p.m.
Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification December 2019
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • RNA polymerase III deficiency
  • Severe VZV infection
  • Predisposition to severe viral infection
  • Defects in intrinsic and innate immunity
OMIM
617455
Clinvar variants
Variants in POLR3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: POLR3F were set to 30211253

15 Apr 2020, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to POLR3F. Source IUIS Classification December 2019 was added to POLR3F. Added phenotypes RNA polymerase III deficiency; Defects in intrinsic and innate immunity; Predisposition to severe viral infection for gene: POLR3F Rating Changed from Red List (low evidence) to Green List (high evidence)

9 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: POLR3F was added gene: POLR3F was added to Viral susceptibility. Sources: Expert Review Red,Victorian Clinical Genetics Services,Expert list Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3F were set to 30211253 Phenotypes for gene: POLR3F were set to Severe VZV infection