Miscellaneous Metabolic Disorders
Gene: GATM

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

Created: 8 Feb 2021, 6:23 a.m.

Panel version: 0.330

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Cerebral creatine deficiency syndrome 3 MIM#612718

OMIM

602360

Clinvar variants

Variants in GATM

Penetrance

None

Publications

Panels with this gene

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