Inherited white matter disorders
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME. Multiple families with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 7:14 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_610
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Rare genetic inflammatory skin disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SAMHD1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SAMHD1 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)SAMHD1 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SAMHD1 was created by [email protected]