Mitochondrial DNA maintenance disorder
Gene: SAMHD1
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
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: samhd1 has been classified as Red List (Low Evidence).
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