Mitochondrial disorders
Gene: ATPAF2As a result of watchlist tag audit the watchlist tag will remain- even though this is now a green gene due to GMS recommendation based on one caseCreated: 13 Jan 2020, 4:33 p.m. | Last Modified: 13 Jan 2020, 4:33 p.m.
Panel Version: 2.3
Rated green and diagnostic-grade by expert reviewer, however only one case found in the literature (PMID: 14757859). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 6 Oct 2016, 12:46 p.m.
This gene was submitted as "ATP12" in the expert list, and is most likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:37 a.m.
aka ATP12
Only one patient reported to date:
consanguineous Moroccan parents, dysmorphic features, including a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet, and flexion contractures of the limbs associated with camptodactyly. She was hypertonic and had an enlarged liver and hypoplastic kidneys. Urinary, plasma, and CSF lactate levels were elevated, and she had increased urinary 3-methylglutaconic acid, a marker of inner mitochondrial membrane dysfunction. Cerebral MRI revealed marked cortical-subcortical atrophy, dysgenesis of the corpus callosum with absent anterior genu and rostrum, and hypoplasia of white matter. She had severe developmental delay with seizures and failure to thrive, and died at 14 months of age from intercurrent infectionCreated: 3 Feb 2016, 4:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to ATPAF2. Panel: Mitochondrial disorders
Publications for ATPAF2 were set to 14757859; 19933271
Publications for ATPAF2 were set to 14757859
Publications for ATPAF2 were set to 14757859
Model of inheritance for gene ATPAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATPAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ATPAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATPAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ATPAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATPAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ATPAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATPAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
ATPAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory