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Hearing loss

Gene: OTOGL

Green List (high evidence)

OTOGL (otogelin like)
EnsemblGeneIds (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 controls
Created: 17 Feb 2019, 4:47 p.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Homozygous nonsense 1 family in our lab. 14 pathogenic mutations associated with hearing loss/SNHL in HGMD
Created: 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

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

17 Feb 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: otogl has been classified as Green List (High Evidence).

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: OTOGL were set to

24 Jun 2015, Gel status: 1

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

24 Jun 2015, Gel status: 1

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