Aminoacidopathy
Gene: AMT
Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/05/2019 - https://search.clinicalgenome.org/CCID:004120
Established gene-disease association with around 15-20% of the reported individuals having glycine encephalopathy (inborn error of glycine metabolism). LoF is the mechanism of disease that has been supported by biochemical functional assays (PMID: 6863283, 18941301)
Sources: ClinGenCreated: 23 May 2024, 12:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glycine encephalopathy MONDO:0011612
Publications
Gene: amt has been classified as Green List (High Evidence).
Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301
Gene: amt has been classified as Green List (High Evidence).
gene: AMT was added gene: AMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301 Phenotypes for gene: AMT were set to glycine encephalopathy MONDO:0011612