Rhabdomyolysis and metabolic muscle disordersGene: HADHB
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 9 variants reported
Created: 5 Dec 2016, 10:54 a.m.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
HADHB was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen
Model of inheritance for gene HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene HADHB were set to Trifunctional protein deficiency 609015
HADHB was created by sleigh
HADHB was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN