Deafness_Isolated
Gene: OTOGL

OTOGL (otogelin like)
EnsemblGeneIds (GRCh38): ENSG00000165899
EnsemblGeneIds (GRCh37): ENSG00000165899
OMIM: 614925, Gene2Phenotype
OTOGL is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 10 affected individuals reported, supportive zebrafish model. DEFINITIVE by ClinGen.
Created: 1 Oct 2020, 1:54 a.m. | Last Modified: 1 Oct 2020, 1:54 a.m.

Panel Version: 0.527

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 84B, MIM# 614944

Publications

Created: 1 Oct 2020, 1:54 a.m.
Last Modified: 1 Oct 2020, 1:54 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.527

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 84B, MIM# 614944

OMIM

614925

Clinvar variants

Variants in OTOGL

Penetrance

None

Publications

Panels with this gene