COX15

COX15, cytochrome c oxidase assembly homolog
OMIM: 603646
PanelMode of inheritanceDetails
9 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME 256000, MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency, Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
R-numbers: R356
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV disorders, Mitochondrial Leukoencephalopathy