Auditory Neuropathy Spectrum Disorder

Gene: ATP11A

No list

ATP11A (ATPase phospholipid transporting 11A)
EnsemblGeneIds (GRCh38): ENSG00000068650
EnsemblGeneIds (GRCh37): ENSG00000068650
OMIM: 605868, Gene2Phenotype
ATP11A is in 6 panels

1 review

Barbara Vona (University Medical Center Göttingen)

Red List (low evidence)

A large German family with auditory synaptopathy/neuropathy that originally mapped the AUNA2 locus to either chromosome 12q24 or 13q34 underwent genome sequencing. Affected individuals showed symmetrical, slowly progressive postlingual hearing loss starting late in the first decade that eventually advanced to to severe hearing impairment in the fifth decade. Auditory brainstem response thresholds were worse than otoacoustic emissions, suggesting a deficit in neural sound encoding. A 5.5 kb deletion encompassing the last coding exon of both RefSeq annotated ATP11A isoforms was found to segregate with the phenotype. RNA studies from an affected individual confirmed stable expression and both a deletion and activation of a cryptic splice acceptor that leads to inclusion of a pseudoexon and novel 38 amino acids at the C-terminus. ATP11A flippase activity was disrupted in mutant cells, compatible with a loss-of-function mechanism, although a gain of function of dominant negative effect could not be excluded. ATP11A is expressed in the mouse inner ear. Its function was explored in depth using a conditional knockout mouse that showed a progressive dysfunction or loss of spiral ganglion neurons. Additional families are needed to replicate an auditory synaptopathy/neuropathy phenotype.
Sources: Literature
Created: 30 Nov 2022, 3:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Auditory synaptopathy/neuropathy; AUNA2


Mode of pathogenicity

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Auditory synaptopathy/neuropathy
  • AUNA2
Clinvar variants
Variants in ATP11A
Mode of Pathogenicity
Panels with this gene

History Filter Activity

30 Nov 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Barbara Vona (University Medical Center Göttingen)

gene: ATP11A was added gene: ATP11A was added to Auditory Neuropathy Spectrum Disorder. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to PMID: 36300302; 28601886 Phenotypes for gene: ATP11A were set to Auditory synaptopathy/neuropathy; AUNA2 Penetrance for gene: ATP11A were set to Complete Mode of pathogenicity for gene: ATP11A was set to Other Review for gene: ATP11A was set to RED gene: ATP11A was marked as current diagnostic