Juvenile dermatomyositis
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
-
- Expert list
- Phenotypes
-
- Aicardi Goutieres Syndrome
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Intracerebral calcification disorders
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- Dystonia, chorea or related movement disorder, adult onset
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited white matter disorders
- DDG2P
- Early onset or syndromic epilepsy
- Leukodystrophy, adult onset
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Juvenile dermatomyositis
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
History Filter Activity
6 Oct 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: panel with only red genes promoted to version 1 after internal agreement.
20 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SAMHD1 was added to Juvenile dermatomyositispanel. Sources: Expert list