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 1.21

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 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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 1.180

    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 2.16
    Latest signed off version: v2.0 (22 Mar 2023)

    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 1.620

    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 Likely inborn error of metabolism - targeted testing not possible


    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 3.106
    Latest signed off version: v3.105 (1 May 2024)

    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 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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
    Amber ATPAF2 in Paediatric or syndromic cardiomyopathy


    Version 4.7
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
    Red ATPAF2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Amber ATPAF2 in Severe Paediatric Disorders


    Version 1.184

    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