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Inborn errors of metabolism

Gene: GATM

Green List (high evidence)

GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 12 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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • arginine:glycine amidinotransferase deficiency
  • Cerebral creatine deficiency syndrome 3, 612718
OMIM
602360
Clinvar variants
Variants in GATM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GATM. Source London North GLH was added to GATM.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM Publications for gene GATM were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GATM was added gene: GATM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718