Mitochondrial disorders
Gene: GATCThe 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
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
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
no mutation reports in literature;
encodes glutamyl-tRNA(Gln) amidotransferase, subunit CCreated: 6 Feb 2016, 11:03 p.m.
Source Expert Review Red was added to GATC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839
Mode of inheritance for gene: GATC was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: gatc has been classified as Amber List (Moderate Evidence).
Publications for gene: GATC were set to
GATC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list