Miscellaneous Metabolic Disorders

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Created: 8 Feb 2021, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3 MIM#612718

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GATM was added gene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 11555793; 27604308 Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718 Review for gene: GATM was set to GREEN gene: GATM was marked as current diagnostic