SCO2

SCO2, cytochrome c oxidase assembly protein
OMIM: 604272
PanelMode of inheritanceDetails
10 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
R-numbers: R78
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
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 5.0
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), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908
R-numbers: R356
Signed-off version 3.20
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Mitochondrial Diseases, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), syndromic HCM, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, Mitochondrial Respiratory Chain Complex IV Deficiency
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1