Aminoacidopathy

Gene: GATM

Green List (high evidence)

GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 14 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930

AGAT deficiency is an inborn error of creatine metabolism.
Well established gene-disease association with evidence of segregation between affected individuals. LoF is the mechanism of disease
Sources: ClinGen
Created: 24 May 2024, 3:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AGAT deficiency MONDO:0012996

Publications

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GATM was added gene: GATM was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 26490222; 23770102; 12468279; 27233232 Phenotypes for gene: GATM were set to AGAT deficiency MONDO:0012996 Review for gene: GATM was set to GREEN