Miscellaneous Metabolic Disorders
Gene: GAMT
Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) 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 GMSCreated: 4 Feb 2021, 4:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag treatable tag was added to gene: GAMT.
Gene: gamt has been classified as Green List (High Evidence).
Gene: gamt has been classified as Green List (High Evidence).
gene: GAMT was added gene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308; 8651275 Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism Review for gene: GAMT was set to GREEN gene: GAMT was marked as current diagnostic