Mitochondrial disorders
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
3 reviews
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 on list classification: 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. Therefore demoted from Green to Red.Created: 25 Feb 2019, 4:34 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
- Phenotypes
-
- Aicardi-Goutieres syndrome-5 (AGS5)
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset leukodystrophy
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: samhd1 has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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 PMID: 19525956; 25604658
Added New Source
Shamima Rahman (UCL Institute of Child Health)SAMHD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
Created
Shamima Rahman (UCL Institute of Child Health)SAMHD1 was created by [email protected]