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
0 reviews
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
-
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited white matter disorders
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset dystonia
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Fetal anomalies
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