Mitochondrial DNA maintenance disorder
Gene: AGK
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. Gene Symbol submitted: AGK; Suggested intial gene rating: Red. Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as the molecular mechanism of variants in this gene being involved in maintenance has not been confirmed.Created: 25 Feb 2019, 4:30 p.m.
Comment on mode of inheritance: Confirmed in G2P and OMIM.Created: 10 Feb 2016, 11:10 a.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green. It is a confirmed DD gene for Sengers syndrome.Created: 10 Feb 2016, 11:09 a.m.
Gene: agk has been classified as Red List (Low Evidence).
gene: AGK was added gene: AGK was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350