Miscellaneous Metabolic Disorders
Gene: AMTEnsemblGeneIds (GRCh38): ENSG00000145020
EnsemblGeneIds (GRCh37): ENSG00000145020
OMIM: 238310, Gene2Phenotype
AMT is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 26 Jan 2021, 6:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Glycine encephalopathy MIM#605899
- disorder of glycine metabolism
- OMIM
- 238310
- Clinvar variants
- Variants in AMT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: amt has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: amt has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AMT was added gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 8188235; 10873393; 11592811 Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism Review for gene: AMT was set to GREEN gene: AMT was marked as current diagnostic