Hereditary ataxia
Gene: POLR3AEnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 19 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added missing publicationsCreated: 16 Jul 2018, 9:14 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is on the Autosomal Recessive Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, multiple families and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951. Discussed internally and promoted to green.Created: 23 Aug 2016, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Ataxia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autosomal Recessive Ataxia
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- Complete
- Publications
- 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
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- 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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: POLR3A were set to 25655951; 21855841
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: POLR3A were set to 25655951; 21855841
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POLR3A were set to Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POLR3A was added to Hereditary ataxiapanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)POLR3A was created by ellenmcdonagh