Juvenile dermatomyositis
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
-
- Expert list
- Phenotypes
-
- Aicardi Goutieres Syndrome
- OMIM
- 606034
- Clinvar variants
- Variants in RNASEH2A
- Penetrance
- Complete
- Panels with this gene
-
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Hydrocephalus
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
6 Oct 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: panel with only red genes promoted to version 1 after internal agreement.
20 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2A was added to Juvenile dermatomyositispanel. Sources: Expert list