ACAD9

acyl-CoA dehydrogenase family member 9
OMIM: 611103, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red ACAD9 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Reye-like presentation with hyperammonaemia
Green ACAD9 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.4 Latest signed off version: v4.0 (1 May 2024) 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 Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Literature Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Red ACAD9 in Mitochondrial liver disease, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green ACAD9 in Mitochondrial disorder with complex I deficiency Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green ACAD9 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency ACAD9 deficiency, 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency
Green ACAD9 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9 deficiency, 611126 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency
Green ACAD9 in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green ACAD9 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Green ACAD9 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
Green ACAD9 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ACAD9 deficiency, 611126 ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Green ACAD9 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex I deficiency ACAD9 deficiency, 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency
Green ACAD9 in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Red ACAD9 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green ACAD9 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green ACAD9 in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126