Rhabdomyolysis and metabolic muscle disorders
Gene: HADHB

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

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

PMID: 35403730

Created: 19 Nov 2023, 12:07 p.m.
Last Modified: 19 Nov 2023, 12:07 p.m.
Panel version: 3.39

Sarah Leigh (Genomics England Curator)

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.

Created: 5 Dec 2016, 10:54 a.m.

Panel version: 0.72

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Literature
UKGTN

Phenotypes

Mitochondrial trifunctional protein deficiency 2, OMIM:620300

OMIM

143450

Clinvar variants

Variants in HADHB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

8 Jan 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300

8 Jan 2024, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HADHB were set to 25929793

4 Jan 2017, Gel status: 4