PanelApp (staging)
  1. Genes and Genomic Entities
  2. NDUFS3

NDUFS3

NADH:ubiquinone oxidoreductase core subunit S3
OMIM: 603846, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NDUFS3 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 8 - MIM#618230

Amber NDUFS3 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230

    Green NDUFS3 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 8 - MIM#618230

    Red NDUFS3 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 8 - MIM#618230

    Green NDUFS3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230

    Amber NDUFS3 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 Amber
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 8, MIM#618230

    Green NDUFS3 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 8, 618230