This Panel is marked as Internal
Moyamoya disease
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 list
- 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
30 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SAMHD1 was created by ellenmcdonagh
30 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SAMHD1 was added to Moyamoya diseasepanel. Sources: Expert list