Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: GATB

Red List (low evidence)

GATB (glutamyl-tRNA amidotransferase subunit B)
EnsemblGeneIds (GRCh38): ENSG00000059691
EnsemblGeneIds (GRCh37): ENSG00000059691
OMIM: 603645, Gene2Phenotype
GATB is in 3 panels

2 reviews

Shamima Rahman (UCL Institute of Child Health)

Red List (low evidence)

no mutation reports in literature
Created: 4 Feb 2016, 6:10 p.m.

Ellen McDonagh (Genomics England Curator)

This gene was submitted as "PET112" in the expert list, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:41 a.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
OMIM
603645
Clinvar variants
Variants in GATB
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GATB was added gene: GATB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GATB was set to Unknown Phenotypes for gene: GATB were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)