Early onset dystonia
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
-
- Emory Genetics Laboratory
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, OMIM:61018
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Likely inborn error of metabolism
- Leukodystrophy, adult onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Early onset dystonia
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
History Filter Activity
29 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNASEH2B were changed from Dystonia to Aicardi-Goutieres syndrome 2, OMIM:61018
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 ()RNASEH2B was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory