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Primary immunodeficiency

Gene: POLR3C

Amber List (moderate evidence)

POLR3C (RNA polymerase III subunit C)
EnsemblGeneIds (GRCh38): ENSG00000186141
EnsemblGeneIds (GRCh37): ENSG00000186141
OMIM: 617454, Gene2Phenotype
POLR3C is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Rating given based on expert review.
Created: 17 Apr 2020, 9:17 a.m. | Last Modified: 17 Apr 2020, 9:17 a.m.
Panel Version: 2.97

Zornitza Stark (Australian Genomics)

I don't know

One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Created: 11 Apr 2020, 5:17 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 Amber
Phenotypes
  • Severe VZV infection
OMIM
617454
Clinvar variants
Variants in POLR3C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: polr3c has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POLR3C was added gene: POLR3C was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3C were set to 28783042 Phenotypes for gene: POLR3C were set to Severe VZV infection Review for gene: POLR3C was set to AMBER