Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POLR3A
POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 19 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)
Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert listCreated: 11 Apr 2020, 5:11 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
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
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