Possible mitochondrial disorder - nuclear genesGene: GATM
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.
Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebral creatine deficiency syndrome 3, 612718
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for arginine:glycine amidinotransferase deficiency.
Created: 2 Mar 2016, 12:11 p.m.
gene: GATM was added gene: GATM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718