Possible mitochondrial disorder - nuclear genes
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, 11:37 a.m. | Last Modified: 8 Jan 2024, 11:37 a.m.
Panel Version: 3.73
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, 11:36 a.m. | Last Modified: 8 Jan 2024, 11:36 a.m.
Panel Version: 3.70
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial trifunctional protein deficiency 2, OMIM:620300
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: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency, 609015
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
Tag Q4_23_promote_green tag was added to gene: HADHB.
gene: HADHB was added gene: HADHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015