Rhabdomyolysis and metabolic muscle disordersGene: ACAD9
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported and supporting in vitro evidence available.
Created: 1 Dec 2016, 4:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
ACAD9 was created by sleigh
ACAD9 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN