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Mitochondrial disorders

Gene: GATM

Red List (low evidence)

GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 13 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

History Filter Activity

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GATM were set to Cerebral creatine deficiency syndrome 3, 612718; arginine:glycine amidinotransferase deficiency

2 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GATM was changed to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen