ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2
OMIM: 608918, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red ATPAF2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Red ATPAF2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship

    Red ATPAF2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Red ATPAF2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Red ATPAF2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273

    Red ATPAF2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • MetBioNet
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273