Genomics England

SURF1

SURF1, cytochrome c oxidase assembly factor

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEIGH SYNDROME 256000, COMPLEX IV DEFICIENCY 220110
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, due to COX IV deficiency, 256000
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, due to COX IV deficiency, 256000, Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, due to COX deficiency, 256000, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green in Likely inborn error of metabolism 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 7.0	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)
Green in Mitochondrial disorder with complex IV deficiency 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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex IV deficiency, Leigh syndrome, due to COX deficiency, 256000, Mitochondrial Diseases, Leigh Syndrome, Complex IV deficiency
Green in Possible mitochondrial disorder - nuclear genes 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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, due to COX IV deficiency, Mitochondrial Leukoencephalopathy, Mitochondrial complex IV disorder