This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Severe VZV infection
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Adult onset neurodegenerative disorder
- COVID-19 research
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary spastic paraplegia
- Pituitary hormone deficiency
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
- DDG2P
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
7 Apr 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: POLR3A was added gene: POLR3A was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3A were set to 29728610; 28783042 Phenotypes for gene: POLR3A were set to Severe VZV infection