SURF1

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

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green SURF1 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 1.17

    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 1.87

    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


    Version 1.8
    Signed off v.1.2 on 17 Feb 2020

    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 1.440

    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 Inborn errors of metabolism


    Version 2.50
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.31
    Signed off v.1.17 on 11 Nov 2020

    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


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • COMPLEX IV DEFICIENCY
    • LEIGH SYNDROME

    Green SURF1 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    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 1.383

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.274
    Signed off v.2.2 on 13 Feb 2020

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.14
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    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

    Green SURF1 in Cardiomyopathies - including childhood onset


    Version 1.18
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4K, 616684
    • Leigh syndrome, due to COX IV deficiency, 256000

    Amber SURF1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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 or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    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

    Green SURF1 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4K, 616684
    • Leigh syndrome, due to COX IV deficiency, 256000