Auditory Neuropathy
Gene: MPZ
MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Only a single family has been reported with auditory neuropathy as a feature of the condition (PMID: 12805115). Another family reported with the same variant (Tyr145Ser), had no hearing loss reported (PMID: 12845552)Created: 13 Nov 2020, 4:22 a.m. | Last Modified: 13 Nov 2020, 4:22 a.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic auditory neuropathy spectrum disorder
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Syndromic auditory neuropathy spectrum disorder
- OMIM
- 159440
- Clinvar variants
- Variants in MPZ
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Nov 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpz has been classified as Red List (Low Evidence).
13 Nov 2020, Gel status: 1
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: MPZ were set to 21176974
13 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MPZ was added gene: MPZ was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MPZ were set to 21176974 Phenotypes for gene: MPZ were set to Syndromic auditory neuropathy spectrum disorder