HADHA

Green HADHA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• 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 1.26

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 1.64

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 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

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

Phenotypes

• Mitochondrial trifunctional protein deficiency, OMIM:609015

Green HADHA in Cholestasis

Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

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 6.3
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• Expert list

Green HADHA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

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

Green HADHA in Likely inborn error of metabolism - targeted testing not possible

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 3.106
Latest signed off version: v3.105 (1 May 2024)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Trifunctional protein deficiency, 609015
• LCHAD deficiency, 609016

Green HADHA in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Green HADHA in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 1.478

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 6.13
Latest signed off version: v6.0 (1 May 2024)

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 6.4
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• NHS GMS

Phenotypes

• LCHAD deficiency, 609016
• Trifunctional protein deficiency, 609015

Green HADHA in Paediatric or syndromic cardiomyopathy

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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 or pain disorder

Version 4.11
Latest signed off version: v4.0 (1 May 2024)

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, chorea or related movement disorder

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Red
• London North GLH

Green HADHA in Severe Paediatric Disorders

Version 1.184

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 1.18
Latest signed off version: v1.7 (31 May 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial trifunctional protein deficiency, OMIM:609015