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  2. Defects of intrinsic and innate immunity
  3. POLR3C
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Defects of intrinsic and innate immunity

Gene: POLR3C

Amber List (moderate evidence)
POLR3C (RNA polymerase III subunit C)
EnsemblGeneIds (GRCh38): ENSG00000186141
EnsemblGeneIds (GRCh37): ENSG00000186141
OMIM: 617454, Gene2Phenotype
POLR3C is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Created: 5 Apr 2020, 8:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Severe VZV infection

Publications

Created: 5 Apr 2020, 8:12 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • varicella zoster infection MONDO:0005608
OMIM
617454
Clinvar variants
Variants in POLR3C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POLR3C was added gene: POLR3C was added to Defects of innate immunity. 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 varicella zoster infection MONDO:0005608