COX15

COX15, cytochrome c oxidase assembly homolog
OMIM: 603646, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green COX15 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    • Mitochondrial Leukoencephalopathy
    Green COX15 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
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 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 complex IV deficiency, nuclear type 6, OMIM:615119
    • Mitochondrial Leukoencephalopathy
    Green COX15 in Mitochondrial disorder with complex IV deficiency


    Level 2: Mitochondrial
    Version 5.5
    Latest signed off version: v5.4 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.18
    Latest signed off version: v5.17 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Red COX15 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.4
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • LEIGH SYNDROME
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
    Green COX15 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEIGH SYNDROME 256000
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
    Amber COX15 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    Latest signed off version: v9.56 (12 Aug 2026)

    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 Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Red COX15 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.5
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Green COX15 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
    Red COX15 in Paediatric pseudo-obstruction syndrome


    Level 2: Gastrohepatology
    Version 2.8
    Latest signed off version: v2.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119