PanelApp
  1. Genes and Genomic Entities
  2. ATPAF2

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 1.3512

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

Red ATPAF2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 0.565

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

    Red ATPAF2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

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

    Red ATPAF2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.207

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