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Likely inborn error of metabolism - targeted testing not possible v1.47 AGK Ivone Leong Source NHS GMS was added to AGK.
Source London North GLH was added to AGK.
Likely inborn error of metabolism - targeted testing not possible v0.4 AGK Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis); Sengers syndrome, 212350; Sengers syndrome 212350; Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691 for gene: AGK
Publications for gene AGK were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 AGK Ellen McDonagh gene: AGK was added
gene: AGK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Mitochondrial DNA depletion syndrome 10; Sengers syndrome, 212350; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism