ETFA

electron transfer flavoprotein alpha subunit
OMIM: 608053, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ETFA 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 IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green ETFA in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.17 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature UKGTN Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Red ETFA in Arthrogryposis Level 2: Neurology Version 9.29 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Glutaric acidemia IIA 231680
Green ETFA 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 Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green ETFA 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 NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Red ETFA 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 Red Phenotypes Glutaric acidemia IIA ,231680
Green ETFA in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green ETFA 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 acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green ETFA in Intellectual disability Level 2: Developmental disorders Version 9.297 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 acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Amber ETFA in Mitochondrial disorders Level 2: Mitochondrial Version 9.43 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 Amber NHS GMS Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Red ETFA in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 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 Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIA Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) HCM
Red ETFA in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.15 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green ETFA 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 IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282