SURF1

SURF1, cytochrome c oxidase assembly factor
OMIM: 185620, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SURF1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder
Green SURF1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature
Green SURF1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Leigh syndrome, due to COX IV deficiency
Green SURF1 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 4.14 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Green SURF1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Mitochondrial Diseases Leigh Syndrome Complex IV deficiency
Green SURF1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 SURF1 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Red SURF1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes COMPLEX IV DEFICIENCY LEIGH SYNDROME
Green SURF1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 COMPLEX IV DEFICIENCY 220110
Green SURF1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH 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 SURF1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome, due to COX IV deficiency, 256000
Green SURF1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, due to COX deficiency, 256000 LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green SURF1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Mitochondrial Diseases Leigh Syndrome Complex IV deficiency
Red SURF1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Amber SURF1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Green SURF1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH 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 SURF1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Red SURF1 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110