Inborn errors of metabolismGene: GATM
Comment on list classification: Additional phenocopy gene identified, phenotype is not particularly relevant
Created: 9 Jul 2019, 2:53 p.m. | Last Modified: 9 Jul 2019, 2:53 p.m.
Panel Version: 1.403
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.
Source: Expert Review Red was removed from gene: GATM
Source NHS GMS was added to GATM. Source London North GLH was added to GATM.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM Publications for gene GATM were changed from to 27604308
gene: GATM was added gene: GATM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718