SURF1

SURF1, cytochrome c oxidase assembly factor
OMIM: 185620
PanelMode of inheritanceDetails
10 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000
R-numbers: R57
Signed-off version 1.137
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME 256000, COMPLEX IV DEFICIENCY 220110
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, due to COX IV deficiency, 256000
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, 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)
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 COX deficiency, 256000, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
R-numbers: R356
Signed-off version 1.2
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:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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 1.17
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:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, due to COX IV deficiency, Mitochondrial Leukoencephalopathy, Mitochondrial complex IV disorder