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Likely inborn error of metabolism - targeted testing not possible v2.82 | GATM | Eleanor Williams Source: Expert Review Red was removed from gene: GATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | GATM |
Ivone Leong Source NHS GMS was added to GATM. Source London North GLH was added to GATM. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATM |
Ellen McDonagh 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 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATM |
Ellen McDonagh 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 |