PanelApp
  1. Genes and Genomic Entities
  2. NDUFA13

NDUFA13

NADH:ubiquinone oxidoreductase subunit A13
OMIM: 609435, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NDUFA13 in Mendeliome


Version 2.636

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249

Green NDUFA13 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.12

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 28, MIM# 618249

    Green NDUFA13 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.187

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632

    Green NDUFA13 in Incidentalome_PREGEN_DRAFT


    Version 1.0

    		0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green