Early onset dystonia
Gene: RNASEH2A
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606034
- Clinvar variants
- Variants in RNASEH2A
- Penetrance
- Complete
- Panels with this gene
-
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Adult onset leukodystrophy
- Hydrocephalus
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()RNASEH2A was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory