Adult onset neurodegenerative disorder
Gene: RNASEH2C
RNASEH2C (ribonuclease H2 subunit C)
EnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 610330
- Clinvar variants
- Variants in RNASEH2C
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Adult onset leukodystrophy
- DDG2P
- Likely inborn error of metabolism
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
25 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
18 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RNASEH2C was added gene: RNASEH2C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2C was set to Unknown Phenotypes for gene: RNASEH2C were set to Dystonia