NDUFS6

NADH:ubiquinone oxidoreductase subunit S6
OMIM: 603848, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NDUFS6 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

Amber NDUFS6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mitochondrial complex I deficiency, MIM#252010

    Green NDUFS6 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

    Red NDUFS6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

    Amber NDUFS6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

    Amber NDUFS6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 9, MIM#618232

    Green NDUFS6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency, 252010 (3)

    Green NDUFS6 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 9, 618232

    Green NDUFS6 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency, 252010 (3)

    Green NDUFS6 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency, 252010 (3)