HADHB

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 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 Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services 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 1.42 Signed off v.1.34 on 4 Mar 2020 Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Trifunctional protein deficiency 609015
Green HADHB in Neuromuscular disorders Version 5.51 Signed off v.5.43 on 4 Mar 2020	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 3.11 Signed off v.3.2 on 13 Feb 2020	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 1.418	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 2.15 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 1.15 Signed off v.1.13 on 17 Feb 2020	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 1.374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS South West GLH Expert list Phenotypes Trifunctional protein deficiency, 609015
Amber HADHB in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.246 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Trifunctional protein deficiency, MIM#609015
Red HADHB in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.8 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Trifunctional protein deficiency, 609015
Green HADHB in Cardiomyopathies - including childhood onset Version 1.5 Signed off v.1.4 on 19 Feb 2020	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 1.6 Signed off v.1.2 on 27 Feb 2020	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 1.8 Signed off v.1.2 on 25 Feb 2020	review	Not set	Sources Expert Review Red London North GLH
Green HADHB in Severe Paediatric Disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Trifunctional protein deficiency, 609015