Monogenic hearing loss
Gene: OTOGLComment on list classification: Promoting from red to green as two families reported in PMID: 23122586 plus one reported by GOSH.Created: 17 Feb 2019, 4:48 p.m.
Associated with Deafness, autosomal recessive 84B in OMIM. Two families reported with homozygous/compound heterozygous mutations in OTOGL gene (PMID: 23122586, Yariz et al. 2012). The mutations were present in heterozygosity in the unaffected parents from each family, respectively, and were not found in controlsCreated: 17 Feb 2019, 4:47 p.m.
Homozygous nonsense 1 family in our lab. 14 pathogenic mutations associated with hearing loss/SNHL in HGMDCreated: 17 Feb 2019, 4:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614944:Deafness, autosomal recessive 84B[Deafness, congenital nonprogressive sensorineural symmetric, moderateVestibular hypofunction (rare); Caused by mutation in the otogelin-like protein gene (OTOGL,)]
Publications
Mode of inheritance for gene: OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: otogl has been classified as Green List (High Evidence).
Publications for gene: OTOGL were set to
OTOGL was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
OTOGL was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert