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Inborn errors of metabolism

Gene: GATC

Amber List (moderate evidence)

GATC (glutamyl-tRNA amidotransferase subunit C)
EnsemblGeneIds (GRCh38): ENSG00000257218
EnsemblGeneIds (GRCh37): ENSG00000257218
OMIM: 617210, Gene2Phenotype
GATC is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Created: 22 Aug 2019, 10:12 a.m. | Last Modified: 22 Aug 2019, 10:12 a.m.
Panel Version: 1.246

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;

encodes glutamyl-tRNA(Gln) amidotransferase, subunit C
Created: 6 Feb 2016, 11:03 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
OMIM
617210
Clinvar variants
Variants in GATC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatc has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatc has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatc has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GATC were set to

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