Likely inborn error of metabolism - targeted testing not possible
Gene: SAMHD1
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 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source: Expert Review Red was removed from gene: SAMHD1
Source NHS GMS was added to SAMHD1. Source London North GLH was added to SAMHD1.
Phenotypes for gene: SAMHD1 were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) to (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5); Aicardi-Goutieres syndrome 5, 612952
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1 Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658
gene: SAMHD1 was added gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 27604308 Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5)