ATPAF2

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red ATPAF2 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273

Amber ATPAF2 in White matter disorders and cerebral calcification - narrow panel


Version 1.198
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Mitochondrial complex V disorders
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Mitochondrial Leukoencephalopathy

    Amber ATPAF2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.138

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial complex V disorders
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green ATPAF2 in Mitochondrial disorder with complex V deficiency


    Version 1.3
    Latest signed off version: v1.2 (17 Feb 2020)

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

    Green ATPAF2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Isolated complex V deficiency
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
    • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
    • Mitochondrial Diseases

    Green ATPAF2 in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
    • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Mitochondrial Diseases
    • Isolated complex V deficiency
    • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type

    Green ATPAF2 in Possible mitochondrial disorder - nuclear genes


    Version 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

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

    Green ATPAF2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.51
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Isolated complex V deficiency
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
    • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
    • Mitochondrial Diseases
    Tags
    • watchlist

    Green ATPAF2 in Cardiomyopathies - including childhood onset


    Version 1.54
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Red ATPAF2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Amber ATPAF2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273