ACADVL

acyl-CoA dehydrogenase very long chain
OMIM: 609575, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ACADVL in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes VLCAD deficiency, MIM# 201475 Tags treatable
Green ACADVL in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes VLCAD deficiency, MIM# 201475 Tags treatable
Green ACADVL in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes VLCAD deficiency MIM#201475 Tags treatable
Amber ACADVL in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Phenotypes VLCAD deficiency 201475
Green ACADVL in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green ACADVL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes VLCAD deficiency, 201475 (3)
Green ACADVL in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet South West GLH NHS GMS Phenotypes Liver disease, hepatomegaly, hypoketotic hypoglycaemia Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form) DCM, mixed syndromic HCM VLCAD deficiency HCM Tags treatable
Green ACADVL in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes VLCAD deficiency
Green ACADVL in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green ACADVL in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes VLCAD deficiency, MIM# 201475
Green ACADVL in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes VLCAD deficiency, 201475 (3)
Green ACADVL in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes VLCAD deficiency, MIM#201475 Tags treatable metabolic
Green ACADVL in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes VLCAD deficiency (MIM#201475)
Red ACADVL in Genomic newborn screening: ICoNS Level 2: Screening Version 0.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes VLCAD deficiency MIM#201475