Aminoacidopathy
Gene: GAMT
Classified Definitive by ClinGen Aminoacidopathy GCEP on 25/01/2019 - https://search.clinicalgenome.org/CCID:004917
Well established gene-disease association.
Reported as an inborn error of creatine metabolism.
The two most commonly reported variants are p.Trp20Ser (c.59G>C) and c.327G>A (p.Lys109=). Both variants are pathogenic on ClinVar (>2 stars) and is classified pathogenic by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (FDA recognised database).
Sources: ClinGenCreated: 24 May 2024, 2:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
guanidinoacetate methyltransferase deficiency MONDO:0012999
Publications
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 Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 20301745; 17466557; 16293431; 12701824; 2441567 Phenotypes for gene: GAMT were set to guanidinoacetate methyltransferase deficiency MONDO:0012999 Review for gene: GAMT was set to GREEN