Monogenic hearing loss
Gene: ESPN
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#609006:Deafness, autosomal recessive 36
Publications
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:46 p.m.
This gene has been classified as Green List (High Evidence).
Publications for ESPN were set to PMID: 10588661; 10975527; 10980526; 15286153; 15930085; 18973245; 8799813; 9763424
Mode of inheritance for ESPN was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ESPN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert