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Inborn errors of metabolism

Gene: HADHB

Green List (high evidence)

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015
OMIM
143450
Clinvar variants
Variants in HADHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HADHB. Source London North GLH was added to HADHB.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HADHB was added gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015