ACADM

acyl-CoA dehydrogenase medium chain
OMIM: 607008, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ACADM in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Emory Genetics Laboratory Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Green ACADM in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Rhabdomyolysis Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
No list ACADM in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Literature Emory Genetics Laboratory Phenotypes Medium chain acyl-CoA dehydrogenase deficiency MCADD MCAD deficiency-associated sudden death sudden infant death syndrome SIDS Tags curated_removed
Red ACADM in Arthrogryposis Level 2: Neurology Version 10.23 Latest signed off version: v10.16 (12 Aug 2026)	review	Not set	Sources Expert Review Red Expert list
Green ACADM 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 Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Acyl-CoA dehydrogenase, medium chain, deficiency of
Green ACADM 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 NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Red ACADM in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Red ACADM 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 MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green ACADM 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 MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
Green ACADM in Intellectual disability Level 2: Developmental disorders Version 11.28 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 MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Red ACADM in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Red ACADM 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	Not set	Sources Expert Review Red London North GLH
Green ACADM in Acute rhabdomyolysis Level 2: Neurology Version 3.1 Latest signed off version: v3.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450
Green ACADM in Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - 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 Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450