HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
OMIM: 143450, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green HADHB in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Trifunctional protein deficiency 609015

Green HADHB in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Trifunctional protein deficiency 609015

Green HADHB in Neuromuscular disorders


Version 5.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Trifunctional protein deficiency, 609015

Red HADHB in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review Not set
Sources
  • Expert Review Red
  • Expert list

Green HADHB in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015

Green HADHB in Inborn errors of metabolism


Version 2.2

review 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

Red HADHB in Possible mitochondrial disorder - nuclear genes


Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Trifunctional protein deficiency, 609015

Green HADHB in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.368

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • Expert list
Phenotypes
  • Trifunctional protein deficiency, 609015

Red HADHB in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Trifunctional protein deficiency, 609015

Green HADHB in Cardiomyopathies - including childhood onset


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • London South GLH
  • Expert Review Green
Phenotypes
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
  • Trifunctional protein deficiency 609015
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
  • Mitochondrial Trifunctional Protein deficiency
  • HCM

Amber HADHB in Hereditary neuropathy NOT PMP22 copy number


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • London North GLH
  • South West GLH
  • NHS GMS
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Trifunctional protein deficiency, 609015

Red HADHB in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH