Mitochondrial DNA maintenance disorder
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SAMHD1; Suggested intial gene rating: Red; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5, 612952
Publications
Zornitza Stark (Australian Genomics)
I agree this is a Green gene, however, what is the link to mitochondria/mitochondrial disease? The only thing I can find is this case report of co-occurence of mitochondrial deletions with SAMDH1 mutations in a patient.Created: 31 Aug 2018, 8:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5, MIM#612952
Publications
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication - Aicardi-Goutieres syndrome 5 is not a primary mitochondrial disorder.Created: 25 Feb 2019, 4:31 p.m.
Comment on list classification: Confirmed DD gene for Aicardi-Goutieres disease, green gene on the intellectual disability gene panel, and multiple studies supporting an association.Created: 15 Feb 2016, 4:03 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Aicardi-Goutieres syndrome 5, 612952
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: samhd1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SAMHD1 was added gene: SAMHD1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 21102625, 26342080 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952