IVD

isovaleryl-CoA dehydrogenase
OMIM: 607036, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green IVD in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Green IVD in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Isovaleric acidemia 243500
Green IVD in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Isovaleric acidemia 243500
Green IVD in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Isovaleric aciduria (Organic acidurias) metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia
Green IVD in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia Isovaleric aciduria (Organic acidurias)
Red IVD in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ISOVALERIC ACIDEMIA
Green IVD in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ISOVALERIC ACIDEMIA 243500
Green IVD in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ISOVALERIC ACIDEMIA
Red IVD in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Isovaleric acidemia
Red IVD in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Isovaleric acidemia 243500
Green IVD in Isovaleric acidaemia - Diagnostic Level 2: Metabolic Version 1.5 Latest signed off version: v1.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Isovaleric acidemia, OMIM:243500