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| Miscellaneous Metabolic Disorders v0.331 | GATM | Bryony Thompson Classified gene: GATM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.331 | GATM | Bryony Thompson Gene: gatm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.330 | GATM |
Bryony Thompson gene: GATM was added gene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 11555793; 27604308 Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718 Review for gene: GATM was set to GREEN gene: GATM was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism. Sources: NHS GMS |
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