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Mitochondrial disease v2.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Mitochondrial disease v0.836 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mitochondrial disease v0.836 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mitochondrial disease v0.278 HADHB Bryony Thompson Marked gene: HADHB as ready
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.278 HADHB Bryony Thompson Classified gene: HADHB as Green List (high evidence)
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.277 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015
Review for gene: HADHB was set to GREEN
Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.276 HADHA Bryony Thompson Marked gene: HADHA as ready
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.276 HADHA Bryony Thompson Classified gene: HADHA as Green List (high evidence)
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.275 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25778941; 7811722; 29459657
Phenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015
Review for gene: HADHA was set to GREEN
Added comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology.
Sources: NHS GMS, Literature
Mitochondrial disease v0.272 HADH Bryony Thompson Marked gene: HADH as ready
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.272 HADH Bryony Thompson Classified gene: HADH as Green List (high evidence)
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.271 HADH Bryony Thompson Classified gene: HADH as Amber List (moderate evidence)
Mitochondrial disease v0.271 HADH Bryony Thompson Gene: hadh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.270 HADH Bryony Thompson gene: HADH was added
gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Review for gene: HADH was set to GREEN
Added comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMS