Genomics England

ACAD9

acyl-CoA dehydrogenase family member 9

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACAD9 deficiency, 611126, ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	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 in Mitochondrial disorder with complex I deficiency R-numbers: R353 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex I deficiency, ACAD9 deficiency, 611126, Mitochondrial complex I deficiency due to ACAD9 deficiency
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126