COX20

COX20, cytochrome c oxidase assembly factor
OMIM: 614698
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110, Mitochondrial complex IV deficiency
R-numbers: R78
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
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 complex IV deficiency, 220110, Isolated complex IV deficiency, Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only, OXPHOS assembly factors
R-numbers: R356
Signed-off version 3.20
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110