ACAD9

acyl-CoA dehydrogenase family member 9
OMIM: 611103
PanelMode of inheritanceDetails
10 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126
R-numbers: R135
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, 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
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACAD9 deficiency, 611126, ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
R-numbers: R353
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, 611126
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex I deficiency, ACAD9 deficiency, 611126, Mitochondrial complex I deficiency due to ACAD9 deficiency
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, 611126
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency due to ACAD9 deficiency 611126