Auditory Neuropathy
Gene: TMEM126AEnsemblGeneIds (GRCh38): ENSG00000171202
EnsemblGeneIds (GRCh37): ENSG00000171202
OMIM: 612988, Gene2Phenotype
TMEM126A is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Only a single family has been reported with auditory neuropathy and optic atrophy. A homozygous missense variant has been identified in an Italian proband with optic atrophy and deafness (likely consanguineous), but it is unknown if the cause of the deafness is auditory neuropathy.Created: 13 Nov 2020, 6:20 a.m. | Last Modified: 13 Nov 2020, 6:20 a.m.
Panel Version: 0.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 7 MIM#612989; Syndromic auditory neuropathy spectrum disorder
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Optic atrophy 7 MIM#612989
- Syndromic auditory neuropathy spectrum disorder
- OMIM
- 612988
- Clinvar variants
- Variants in TMEM126A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM126A was added gene: TMEM126A was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126A were set to 21176974 Phenotypes for gene: TMEM126A were set to Optic atrophy 7 MIM#612989; Syndromic auditory neuropathy spectrum disorder