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Mitochondrial disorders

Gene: GATC

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

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.
Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Created: 29 Jul 2022, 1:47 p.m.
Last Modified: 29 Jul 2022, 1:47 p.m.
Panel version: 2.109

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Two families with 6 affected individuals reported; same homozygous variant.
Created: 20 Mar 2020, 6:52 a.m. | Last Modified: 20 Mar 2020, 6:52 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial cardiomyopathy

Publications

Created: 20 Mar 2020, 6:52 a.m.
Last Modified: 20 Mar 2020, 6:52 a.m.
Panel version: 2.5

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, 10:10 a.m. | Last Modified: 22 Aug 2019, 10:10 a.m.
Panel Version: 1.485
Created: 22 Aug 2019, 10:10 a.m.
Last Modified: 22 Aug 2019, 10:10 a.m.
Panel version: 1.485

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.
Created: 6 Feb 2016, 11:03 p.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 42, OMIM:618839
OMIM
617210
Clinvar variants
Variants in GATC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to GATC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

17 Mar 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839

17 Mar 2022, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GATC was changed from to BIALLELIC, autosomal or pseudoautosomal

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

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GATC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list