1. Genes and Genomic Entities
  2. NDUFAF6

NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6
OMIM: 612392, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green NDUFAF6 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Green NDUFAF6 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

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 17 (MIM#618239)
    Green NDUFAF6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Green NDUFAF6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Amber NDUFAF6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 17, MIM#618239
    Green NDUFAF6 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
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
    Red NDUFAF6 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 17, 612392
    Green NDUFAF6 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leigh syndrome MONDO:0009723
    • Mitochondrial complex I deficiency, nuclear type 17 MIM#618239
    Amber NDUFAF6 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fanconi renotubular syndrome 5, MIM# 618913