COX7B

cytochrome c oxidase subunit 7B
OMIM: 300885, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green COX7B in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, OMIM:300887
No list COX7B in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Tags
  • curated_removed
Green COX7B in Mitochondrial disorder with complex IV deficiency


Version 3.21
Latest signed off version: v3.20 (1 May 2024)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, 300887
Green COX7B in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex IV deficiency
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
  • Linear skin defects with multiple congenital anomalies
Green COX7B in Likely inborn error of metabolism - targeted testing not possible


Version 5.8
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Isolated complex IV deficiency
    • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Linear skin defects with multiple congenital anomalies
    • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
    • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
    Green COX7B in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Linear skin defects with multiple congenital anomalies 2, 300887
    Red COX7B in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887
    Green COX7B in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
    Green COX7B in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
    Amber COX7B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Green COX7B in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Isolated complex IV deficiency
    • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
    • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
    • Linear skin defects with multiple congenital anomalies
    Amber COX7B in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
    Amber COX7B in Paediatric or syndromic cardiomyopathy


    Version 4.7
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Linear skin defects with multiple congenital anomalies 2, 300887
    Red COX7B in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green COX7B in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Linear skin defects with multiple congenital anomalies 2, 300887