Early onset dystonia
Gene: SAMHD1
SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Early onset or syndromic epilepsy
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Juvenile dermatomyositis
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Intellectual disability
- Mitochondrial DNA maintenance disorder
- DDG2P
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
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 ()SAMHD1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory