Rhabdomyolysis and metabolic muscle disorders
Gene: HADHAComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 5 Dec 2016, 10:52 a.m.
Comment on phenotypes: Also associated with Fatty liver, acute, of pregnancy 609016, HELLP syndrome, maternal, of pregnancy 609016,
LCHAD deficiency 609016Created: 1 Dec 2016, 12:28 p.m.
Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency, OMIM:609015
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for HADHA were set to Trifunctional protein deficiency 609015
HADHA 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 HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene HADHA were set to Trifunctional protein deficiency 609015
HADHA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
HADHA was created by sleigh