Rhabdomyolysis and metabolic muscle disorders
Gene: HADHB
4 patients with biallelic variants and episodic myopathy (potentially treatable) reported in PMID: 35403730. Sufficient for green rating.Created: 19 Nov 2023, 12:07 p.m. | Last Modified: 19 Nov 2023, 12:07 p.m.
Panel Version: 3.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
episodic myopathy
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 9 variants reportedCreated: 5 Dec 2016, 10:54 a.m.
Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Publications for gene: HADHB were set to 25929793
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