ETFDH

electron transfer flavoprotein dehydrogenase
OMIM: 231675, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green ETFDH in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIC, MIM# 231680 Tags treatable
Green ETFDH in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Tags treatable
Green ETFDH in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glutaric acidemia IIC MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Red ETFDH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIC, MIM#231680
Green ETFDH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric acidemia IIC, MIM#231680 Tags treatable
Green ETFDH in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Glutaric Acidemia IIC Tags treatable
Green ETFDH in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 sensory neuropathy Tags treatable
Amber ETFDH in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Glutaric acidemia IIC 231680
Green ETFDH in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green ETFDH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIC, 231680 (3)
Red ETFDH in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Red NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIC Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) HCM ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Disorders of ubiquinone metabolism and biosynthesis GLUTARIC ACIDURIA TYPE 2C
Green ETFDH in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaric acidemia IIC
Green ETFDH in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green ETFDH in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Glutaric acidemia IIC, MIM#231680
Green ETFDH in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIC, 231680 (3)
Green ETFDH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glutaric acidemia IIC, MIM#231680 Tags treatable metabolic
Green ETFDH in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIC, MIM# 231680
Green ETFDH in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation