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STRs in panel
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Primary immunodeficiency

Gene: POLR3F

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Created: 22 Apr 2020, 12:09 p.m. | Last Modified: 22 Apr 2020, 12:09 p.m.
Panel Version: 2.113

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Created: 16 Apr 2020, 11:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Severe VZV infection

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Severe VZV infection
OMIM
617455
Clinvar variants
Variants in POLR3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

22 Apr 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: POLR3F were set to 30211253

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POLR3F was added gene: POLR3F was added to Primary immunodeficiency. 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