ETFDH

Green ETFDH in Hyperammonaemia

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

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Glutaric acidemia IIC 231680

Green ETFDH in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

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

Phenotypes

• Glutaric acidemia IIC 231680

Green ETFDH in White matter disorders and cerebral calcification - narrow panel

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

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Glutaric Acidemia IIC
• Mitochondrial Leukoencephalopathy

Green ETFDH in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180

Sources

• Expert Review Green
• Expert list

Phenotypes

• Glutaric Acidemia IIC
• Mitochondrial Leukoencephalopathy

Red ETFDH in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• Expert list

Phenotypes

• Glutaric acidemia IIC 231680

Red ETFDH in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• NHS GMS
• Yorkshire and North East GLH
• Expert Review

Phenotypes

• Glutaric acidemia IIC, 231680
• Glutaric acidemia IIA, 231680
• Glutaric acidemia IIB, 231680

Green ETFDH in Undiagnosed metabolic disorders

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

Sources

• Expert Review Green
• Literature

Phenotypes

• ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
• Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
• Glutaric acidemia IIC
• Disorders of ubiquinone metabolism and biosynthesis
• GLUTARIC ACIDURIA TYPE 2C

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

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
• GLUTARIC ACIDURIA TYPE 2C
• Glutaric acidemia IIC
• Disorders of ubiquinone metabolism and biosynthesis
• ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)

Green ETFDH in Possible mitochondrial disorder - nuclear genes

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

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Glutaric acidemia IIC, 231680

Green ETFDH in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• GLUTARIC ACIDURIA TYPE 2C

Green ETFDH in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• GLUTARIC ACIDURIA TYPE 2C 231680

Amber ETFDH in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

Sources

• Expert Review Amber
• NHS GMS
• London North GLH

Phenotypes

• Glutaric acidemia IIC, 231680
• Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive

Green ETFDH in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• GLUTARIC ACIDURIA TYPE 2C

Green ETFDH in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• Disorders of ubiquinone metabolism and biosynthesis
• GLUTARIC ACIDURIA TYPE 2C
• Glutaric acidemia IIC

Red ETFDH in Paediatric or syndromic cardiomyopathy

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

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Red
• MetBioNet
• MetBioNet

Phenotypes

• Disorders of ubiquinone metabolism and biosynthesis
• GLUTARIC ACIDURIA TYPE 2C
• Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
• ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
• Glutaric acidemia IIC
• Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
• Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
• HCM

Amber ETFDH in Hereditary neuropathy or pain disorder

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

Sources

• Expert Review Amber
• London North GLH
• NHS GMS
• NHS GMS
• London North GLH

Phenotypes

• Glutaric acidemia IIC, 231680
• Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive

Red ETFDH in Childhood onset dystonia, chorea or related movement disorder

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

Sources

• Expert Review Red
• London North GLH

Green ETFDH in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Glutaric acidemia IIC, 231680

Green ETFDH 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

• Glutaric acidemia IIC, OMIM:231680