Adult onset neurodegenerative disorder
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- COVID-19 research
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
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: SAMHD1 was added gene: SAMHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SAMHD1 was set to Unknown Phenotypes for gene: SAMHD1 were set to Dystonia