HADHA

Green HADHA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

Sources

• Expert Review Green
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Trifunctional protein deficiency 609015

Green HADHA in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• LCHAD deficiency 609016

Red HADHA in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

Sources

• Literature

Phenotypes

• LCHAD deficiency, 609016

Green HADHA in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.78
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Literature
• UKGTN

Phenotypes

• Mitochondrial trifunctional protein deficiency, OMIM:609015

Green HADHA in Neuromuscular disorders

Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

Sources

• Expert Review Green

Phenotypes

• Trifunctional protein deficiency

Green HADHA in Cholestasis

Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

Sources

• Expert Review Green
• Expert list

Phenotypes

• LCHAD deficiency, OMIM:609016, MONDO:0012173

Red HADHA in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

Sources

• Expert Review Red
• Expert list

Green HADHA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Green
• Literature

Phenotypes

• Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
• Trifunctional protein deficiency 609015

Green HADHA in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• 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 HADHA in Possible mitochondrial disorder - nuclear genes

Version 1.94
Latest signed off version: v1.17 (11 Nov 2020)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Trifunctional protein deficiency, 609015
• LCHAD deficiency, 609016

Green HADHA in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Green HADHA in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016

Green HADHA in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.454

Sources

• Expert Review Green
• London North GLH
• NHS GMS
• South West GLH
• Expert list

Phenotypes

• Trifunctional protein deficiency, 609015

Green HADHA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Red HADHA in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.117
Latest signed off version: v2.4 (17 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Red
• NHS GMS

Phenotypes

• LCHAD deficiency, 609016
• Trifunctional protein deficiency, 609015

Green HADHA in Cardiomyopathies - including childhood onset

Version 1.76
Latest signed off version: v1.4 (19 Feb 2020)

Sources

• NHS GMS
• MetBioNet
• Expert Review Green
• MetBioNet
• 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 HADHA in Hereditary neuropathy NOT PMP22 copy number

Version 1.103
Latest signed off version: v1.36 (5 Aug 2021)

Sources

• Expert Review Amber
• South West GLH
• Expert list
• London North GLH
• NHS GMS
• London North GLH
• NHS GMS
• South West GLH

Phenotypes

• Trifunctional protein deficiency, 609015

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

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green HADHA in Severe Paediatric Disorders

Version 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Fatty liver, acute, of pregnancy, 609016
• LCHAD deficiency, 609016
• Trifunctional protein deficiency, 609015
• HELLP syndrome, maternal, of pregnancy, 609016

Green HADHA in Acute rhabdomyolysis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 0.10

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial trifunctional protein deficiency, OMIM:609015