This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Pituitary hormone deficiency
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)POLR3A was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)POLR3A was created by Sarah Leigh