Rhabdomyolysis and metabolic muscle disordersGene: ETFA
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported in more than six cases.
Created: 2 Dec 2016, 11:18 a.m.
Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA 231680
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
ETFA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene ETFA were set to Glutaric acidemia IIA 231680
ETFA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
ETFA was created by sleigh