Possible mitochondrial disorder - nuclear genes
Gene: GATCComment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.Created: 4 Jun 2019, 4:10 p.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family with three affected homozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes.Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial cardiomyopathy disorder
Publications
Comment on list classification: This gene should remain Amber, as there is not enough evidence for the specific gene, as agreed for rules on gene family members.Created: 5 Jun 2019, 1:04 p.m.
Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber.Created: 25 Feb 2019, 5:29 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial cardiomyopathy disorder
Publications
no mutation reports in literature;
encodes glutamyl-tRNA(Gln) amidotransferase, subunit CCreated: 6 Feb 2016, 11:03 p.m.
Gene: gatc has been classified as Amber List (Moderate Evidence).
Gene: gatc has been classified as Amber List (Moderate Evidence).
Gene: gatc has been classified as Amber List (Moderate Evidence).
gene: GATC was added gene: GATC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATC were set to 30283131 Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy disorder