Inborn errors of metabolismGene: ATPAF2
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.
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 infection
Created: 3 Feb 2016, 4:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to ATPAF2. Source London North GLH was added to ATPAF2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2 Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271
gene: ATPAF2 was added gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 27604308 Phenotypes for gene: ATPAF2 were set to 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