Monogenic hearing loss
Gene: OTOGLEnsemblGeneIds (GRCh38): ENSG00000165899
EnsemblGeneIds (GRCh37): ENSG00000165899
OMIM: 614925, Gene2Phenotype
OTOGL is in 4 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment 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.
Emma Ashton (Great Ormond Street Hospital)
Homozygous nonsense 1 family in our lab. 14 pathogenic mutations associated with hearing loss/SNHL in HGMDCreated: 17 Feb 2019, 4:35 p.m.
Jun Shen (Harvard Medical School)
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
- PMID:23122586
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Deafness, autosomal recessive 84B, 614944
- OMIM
- 614925
- Clinvar variants
- Variants in OTOGL
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: otogl has been classified as Green List (High Evidence).
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: OTOGL were set to
Added New Source
Ellen McDonagh (Genomics England Curator)OTOGL was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)OTOGL was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert