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Primary immunodeficiency

Gene: POLR3A

Amber List (moderate evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 20 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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

Phenotypes
Severe VZV infection

Publications

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: polr3a 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: 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