Miscellaneous Metabolic Disorders

Gene: AMT

Green List (high evidence)

AMT (aminomethyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000145020
EnsemblGeneIds (GRCh37): ENSG00000145020
OMIM: 238310, Gene2Phenotype
AMT is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 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

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: amt has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: amt has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 1

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