ETFA

electron transfer flavoprotein alpha subunit
OMIM: 608053, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ETFA in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIA, MIM# 231680 Tags treatable
Green ETFA in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Tags treatable
Green ETFA in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIA MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Red ETFA in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIA, MIM# 231680
Green ETFA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric acidemia IIA, MIM#231680 Tags treatable
Green ETFA in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green ETFA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIA, 231680 (3)
Red ETFA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Red NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIA Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) HCM Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
Green ETFA in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaric acidemia IIA
Green ETFA in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green ETFA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Glutaric acidemia IIA, MIM#231680
Green ETFA in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIA, 231680 (3)
Green ETFA in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glutaric acidaemia IIA, MIM#231680 Tags treatable metabolic
Green ETFA in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIA, 231680 (3)
Green ETFA in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation