Rhabdomyolysis and metabolic muscle disordersGene: SUCLA2
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Five variants reported in four cases
Created: 5 Dec 2016, 2:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
SUCLA2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
SUCLA2 was created by sleigh