Likely inborn error of metabolism

Gene: ATPAF2

I don't know

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.

Green List (high evidence)

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 infection

Created: 3 Feb 2016, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal