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  2. Susceptibility to Viral Infections
  3. POLR3A
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Susceptibility to Viral Infections

Gene: POLR3A

Amber List (moderate evidence)
POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 5 Apr 2020, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Severe VZV infection

Publications

Created: 5 Apr 2020, 8:04 a.m.

Panel version: 0.16

History Filter Activity

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3a has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3a has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR3A was added gene: POLR3A was added to Susceptibility to Viral Infections. 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