ETFDH

electron transfer flavoprotein dehydrogenase
OMIM: 231675, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green ETFDH in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Glutaric acidemia IIC 231680
Green ETFDH in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIC 231680
Green ETFDH in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	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 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glutaric Acidemia IIC Mitochondrial Leukoencephalopathy
Red ETFDH in Arthrogryposis Level 2: Neurology Version 9.27 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Glutaric acidemia IIC 231680
Red ETFDH in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 1.643	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Metabolic Version 8.92 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIC, 231680
Green ETFDH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.155 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C
Green ETFDH in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 1.506	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Developmental disorders Version 9.296 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C
Green ETFDH in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	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
Green ETFDH in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.39 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Glutaric acidemia IIC, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Red ETFDH in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green ETFDH in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIC, OMIM:231680