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  2. Susceptibility to Viral Infections
  3. POLR3F
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Susceptibility to Viral Infections

Gene: POLR3F

Red List (low evidence)
POLR3F (RNA polymerase III subunit F)
EnsemblGeneIds (GRCh38): ENSG00000132664
EnsemblGeneIds (GRCh37): ENSG00000132664
OMIM: 617455, Gene2Phenotype
POLR3F is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Created: 5 Apr 2020, 8:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872

Publications

Created: 5 Apr 2020, 8:20 a.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
OMIM
617455
Clinvar variants
Variants in POLR3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3f has been classified as Red List (Low Evidence).

5 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: POLR3F was added gene: POLR3F was added to Susceptibility to Viral Infections. Sources: 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 Review for gene: POLR3F was set to RED