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Fetal anomalies

Gene: AMT

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, typically presents in the newborn period. However, corpus callosum abnormalities rarely described.
Created: 8 Nov 2021, 1:34 a.m. | Last Modified: 8 Nov 2021, 1:34 a.m.
Panel Version: 0.143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, MIM# 605899

Publications

Details

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMT were changed from GLYCINE ENCEPHALOPATHY to Glycine encephalopathy, MIM# 605899

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMT were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY