Auditory Neuropathy

Gene: MPZ

Red List (low evidence)

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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