Rhabdomyolysis and metabolic muscle disordersGene: ETFDH
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 8 variants reported publicly.
Created: 2 Dec 2016, 11:25 a.m.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
ETFDH was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene ETFDH were set to Glutaric acidemia IIC 231680
ETFDH was created by sleigh
ETFDH was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN