Mitochondrial disorders
Gene: HADHB
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
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
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
Tag Q4_23_promote_green tag was added to gene: HADHB.
Gene: hadhb has been classified as Amber List (Moderate Evidence).
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
gene: HADHB was added gene: HADHB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015