Possible mitochondrial disorder - nuclear genes

Gene: GATC

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: 4 Jun 2019, 4:10 p.m.

Green List (high evidence)

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

• 30283131

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.

Green List (high evidence)

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

• 30283131

I don't know

no mutation reports in literature;

encodes glutamyl-tRNA(Gln) amidotransferase, subunit C

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