This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Numerous variants reported. Dystonia can be a feature. May be appropriate to include following clinical input.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Aicardi-Goutieres syndrome 5, 612952
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset dystonia, chorea or related movement disorder
- Rare genetic inflammatory skin disorders
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Adult onset leukodystrophy
- DDG2P
- Cerebral vascular malformations
- COVID-19 research
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Early onset dystonia
- Juvenile dermatomyositis
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to SAMHD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SAMHD1 was added gene: SAMHD1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SAMHD1 was set to