SURF1

SURF1, cytochrome c oxidase assembly factor
OMIM: 185620
PanelMode of inheritanceDetails
9 panels
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME 256000, COMPLEX IV DEFICIENCY 220110
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, due to COX IV deficiency, 256000
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, due to COX deficiency, 256000, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Diseases, Complex IV deficiency, Leigh Syndrome, Isolated complex IV deficiency, Leigh syndrome, due to COX deficiency, 256000, 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
Charcot-Marie-Tooth disease, type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Leigh syndrome, due to COX deficiency, 256000, Mitochondrial Diseases, Leigh Syndrome, Complex IV deficiency
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, due to COX IV deficiency, Mitochondrial Leukoencephalopathy, Mitochondrial complex IV disorder