Mitochondrial disorders
Gene: GATM

GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 11 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Additional phenocopy gene identified, phenotype is not particularly relevant
Created: 9 Jul 2019, 2:53 p.m. | Last Modified: 9 Jul 2019, 2:53 p.m.

Panel Version: 1.403

Created: 9 Jul 2019, 2:53 p.m.
Last Modified: 9 Jul 2019, 2:53 p.m.
Panel version: 1.403

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for arginine:glycine amidinotransferase deficiency.
Created: 2 Mar 2016, 12:11 p.m.

Created: 2 Mar 2016, 12:11 p.m.

Panel version: 0.412

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Cerebral creatine deficiency syndrome 3, OMIM:612718

OMIM

602360

Clinvar variants

Variants in GATM

Penetrance

Complete

Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GATM were changed from Cerebral creatine deficiency syndrome 3, 612718; arginine:glycine amidinotransferase deficiency to Cerebral creatine deficiency syndrome 3, OMIM:612718

9 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatm has been classified as Red List (Low Evidence).

2 Mar 2016, Gel status: 4