Primary immunodeficiencyGene: POLR3A
Comment on list classification: Amber rating given based on expert review.
Created: 17 Apr 2020, 9:18 a.m. | Last Modified: 17 Apr 2020, 9:18 a.m.
Panel Version: 2.98
Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Created: 11 Apr 2020, 5:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe VZV infection
Gene: polr3a has been classified as Amber List (Moderate Evidence).
gene: POLR3A was added gene: POLR3A was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3A were set to 28783042; 29728610 Phenotypes for gene: POLR3A were set to Severe VZV infection Review for gene: POLR3A was set to AMBER