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
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurodegenerative disorders, adult onset
- Mitochondrial DNA maintenance disorder
- DDG2P
- Rare genetic inflammatory skin disorders
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Intracerebral calcification disorders
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal anomalies
- Likely inborn error of metabolism
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