Monogenic hearing loss
Gene: ESPNEnsemblGeneIds (GRCh38): ENSG00000187017
EnsemblGeneIds (GRCh37): ENSG00000187017
OMIM: 606351, Gene2Phenotype
ESPN is in 2 panels
4 reviews
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This is a confirmed DD gene for deafness, autosomal recessive type 36 with or without vestibular involvement.Created: 17 Feb 2016, 2:44 p.m.
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#609006:Deafness, autosomal recessive 36
Publications
- PMID:10588661
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:46 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant
- Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant
- OMIM
- 606351
- Clinvar variants
- Variants in ESPN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ESPN were set to PMID: 10588661; 10975527; 10980526; 15286153; 15930085; 18973245; 8799813; 9763424
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for ESPN was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert