Auditory Neuropathy Spectrum Disorde
Gene: TMEM43

TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 9 panels

1 review

Barbara Vona (University Medical Center Göttingen)

Red List (low evidence)

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
Created: 3 Aug 2022, 11:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auditory neuropathy

Publications

PMID: 34050020

Created: 3 Aug 2022, 11:09 a.m.

Panel version: 1.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Auditory neuropathy

OMIM

612048

Clinvar variants

Variants in TMEM43

Penetrance

Complete

Publications

PMID: 34050020

Panels with this gene

History Filter Activity

3 Aug 2022, Gel status: 0

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

Barbara Vona (University Medical Center Göttingen)

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

Auditory Neuropathy Spectrum Disorde Gene: TMEM43