Dystonia, chorea or related movement disorder, adult onset
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
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED, there is relevance only to childhood onsetCreated: 19 Jun 2019, 4:49 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Aicardi-Goutieres syndrome 5, 612952
- Dystonia
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- DDG2P
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Fetal anomalies
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Likely inborn error of metabolism
- Leukodystrophy, adult onset
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Early onset dystonia
- Juvenile dermatomyositis
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
23 Apr 2019, Gel status: 1
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 25604658; 20842748
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SAMHD1.
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to SAMHD1.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SAMHD1 was added gene: SAMHD1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SAMHD1 was set to Phenotypes for gene: SAMHD1 were set to Dystonia