PanelApp
  1. Genes and Genomic Entities
  2. NDUFAF8

NDUFAF8

NADH:ubiquinone oxidoreductase complex assembly factor 8
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NDUFAF8 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leigh syndrome

Amber NDUFAF8 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, MIM#618776
    • Leigh Syndrome MONDO:0009723

    Green NDUFAF8 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leigh syndrome

    Red NDUFAF8 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • No OMIM phenotype