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
-
- Rare genetic inflammatory skin disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Intracerebral calcification disorders
- Possible mitochondrial disorder, nuclear genes
- Dystonia, chorea or related movement disorder, adult onset
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- 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
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