PanelApp (staging)
  1. Genes and Genomic Entities
  2. NDUFAF1

NDUFAF1

NADH:ubiquinone oxidoreductase complex assembly factor 1
OMIM: 606934, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NDUFAF1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

Green NDUFAF1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 11 - MIM#618234

    Red NDUFAF1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

    Amber NDUFAF1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

    Green NDUFAF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 11, MIM#618234

    Green NDUFAF1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mitochondrial Leukoencephalopathy

    Green NDUFAF1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 11, 618234