Mitochondrial disorders
Gene: AGK
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Victorian Clinical Genetics Services was added to AGK. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for AGK were set to Sengers syndrome, 212350; Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691
Mode of inheritance for AGK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
AGK was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AGK was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AGK was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen