Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: AMT

Green List (high evidence)

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Glycine encephalopathy (GCE), also called nonketotic hyperglycinemia (NKH), is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die with the neonatal period; atypical cases have later onset and less severe psychomotor development

missense, microdeletion and splice variants all reported
Created: 8 Aug 2024, 1:57 a.m. | Last Modified: 8 Aug 2024, 1:57 a.m.
Panel Version: 1.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme system

Well established gene-disease association.

HGNC approved symbol/name: AMT

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N
Created: 5 Aug 2024, 4:11 a.m. | Last Modified: 5 Aug 2024, 4:11 a.m.
Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonketotic Hyperglycinemia; Glycine encephalopathy MIM#620398

Publications

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: AMT were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glycine encephalopathy, 605899 (3) for gene: AMT

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMT was added gene: AMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)