| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Auditory Neuropathy Spectrum Disorder v1.9 | TMEM43 |
Barbara Vona gene: TMEM43 was added gene: TMEM43 was added to Auditory Neuropathy Spectrum Disorder. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to PMID: 34050020 Phenotypes for gene: TMEM43 were set to Auditory neuropathy Penetrance for gene: TMEM43 were set to Complete Review for gene: TMEM43 was set to RED Added comment: Two families with autosomal dominant inheritance patterns segregated the same p.(Arg372Ter) variant in TMEM43. Affected individuals reported late onset and progressive auditory neuropathy and were able to hear sound but not discriminate speech. Following cochlear implantation, speech discrimination was fully restored. A knock-in mouse was studied that recapitulated the progressive hearing impairment that was observed in the affected individuals. This gene has been assigned to the AUNA3 locus (OMIM: #619832). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||