Monogenic hearing loss
Gene: ILDR1New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#609646:Deafness, autosomal recessive 42[Deafness, neurosensoryAffects all frequenciesNonprogressive]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:37 p.m.
Publications for ILDR1 were set to PMID:15381095; 15641023; 21255762; 24990150
Mode of inheritance for ILDR1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ILDR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ILDR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ILDR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ILDR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert