Rhabdomyolysis and metabolic muscle disorders
Gene: TK2Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2Created: 8 Jan 2019, 5:23 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported.Created: 5 Dec 2016, 2:34 p.m.
Comment on phenotypes: Also associated with ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 (one case, two variants)Created: 5 Dec 2016, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Publications
Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for TK2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
TK2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
TK2 was created by sleigh