Mitochondrial disorders

Gene: HADHB

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.

Created: 8 Jan 2024, 11:04 a.m. | Last Modified: 8 Jan 2024, 11:04 a.m.

Panel Version: 4.134

HADHB encodes mitochondrial trifunctional protein beta subunit. As reviewed by Dmitrijs Rots, there are four unrelated patients reported with biallelic HADHB variants and episodic myopathy.

This gene has been associated with relevant phenotypes in OMIM (MIM #620300), but not in Gene2Phenotype.

Created: 8 Jan 2024, 11:01 a.m. | Last Modified: 8 Jan 2024, 11:01 a.m.

Panel Version: 4.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial trifunctional protein deficiency 2, OMIM:620300

Publications

• 35403730

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, 12:06 p.m. | Last Modified: 19 Nov 2023, 12:06 p.m.

Panel Version: 4.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
episodic myopathy

Publications

• PMID: 35403730

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.

Panel Version: 1.412

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal