Intracerebral calcification disorders
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene found in 3/4 original sources. 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.Created: 9 Sep 2016, 10:09 a.m.
Mode of inheritance sourced from G2P.Created: 10 Feb 2016, 4:58 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Aicardi-Goutieres syndrome
- Aicardi-Goutieres Syndrome
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Juvenile dermatomyositis
- Fetal anomalies
History Filter Activity
Upload gene information
Louise Daugherty (Genomics England Curator)SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SAMHD1 were set to 25604658
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)SAMHD1 was added to Intracerebral calcification disorderspanel. Source: UKGTN
Added New Source
Olivia Niblock (Genomics England Curator)SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Olivia Niblock (Genomics England Curator)SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SAMHD1 was created by ellenmcdonagh