Juvenile dermatomyositis
Gene: RNASEH2B
RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
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Details
- Sources
-
- Expert list
- Phenotypes
-
- Aicardi Goutieres Syndrome
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intracerebral calcification disorders
- Hereditary spastic paraplegia, childhood onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
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)RNASEH2B was added to Juvenile dermatomyositispanel. Sources: Expert list