NDUFB11

NADH:ubiquinone oxidoreductase subunit B11
OMIM: 300403, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Amber NDUFB11 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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
  • Other
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3, OMIM:300952
No list NDUFB11 in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

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
No list NDUFB11 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Research
  • Literature
Phenotypes
  • Optic neuropathy, optic atrophy
  • LHON-like
Amber NDUFB11 in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • sideroblastic anaemia
Green NDUFB11 in Mitochondrial disorder with complex I deficiency


Level 2: Mitochondrial
Version 3.19
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 Green
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
  • Linear skin defects with multiple congenital anomalies 3, 300952
Green NDUFB11 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

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
Phenotypes
  • Isolated complex I deficiency
  • Linear skin defects with multiple congenital anomalies 3
  • histiocytoid cardiomyopathy
  • microphthalmia with linear skin defects syndrome
Green NDUFB11 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 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
    Phenotypes
    • Linear skin defects with multiple congenital anomalies 3
    • microphthalmia with linear skin defects syndrome
    • histiocytoid cardiomyopathy
    • Isolated complex I deficiency
    Green NDUFB11 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    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
    • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
    • Linear skin defects with multiple congenital anomalies 3, 300952
    Green NDUFB11 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    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
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021
    • Linear skin defects with multiple congenital anomalies 3, OMIM:300952
    • Cardiomyopathy
    • Agenesis of corpus callosum (ACC)
    Green NDUFB11 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
    Green NDUFB11 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 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
    Phenotypes
    • Isolated complex I deficiency
    • Linear skin defects with multiple congenital anomalies 3
    • histiocytoid cardiomyopathy
    • microphthalmia with linear skin defects syndrome
    Red NDUFB11 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    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 Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
    Green NDUFB11 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • MetBioNet
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
    • Linear skin defects with multiple congenital anomalies 3, 300952
    Red NDUFB11 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 Not set
    Sources
    • Expert Review Red
    • London North GLH