Deafness_Isolated
Gene: OTOG

OTOG (otogelin)
EnsemblGeneIds (GRCh38): ENSG00000188162
EnsemblGeneIds (GRCh37): ENSG00000188162
OMIM: 604487, Gene2Phenotype
OTOG is in 5 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

LP/P variants in ClinVar: >10 are NMD-predicted variants and only 1 is missense (PMID: 23122587).
Created: 13 Jan 2020, 6:08 a.m. | Last Modified: 13 Jan 2020, 6:08 a.m.

Panel Version: 0.226

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 18B, MIM#614945

Publications

Created: 13 Jan 2020, 6:08 a.m.
Last Modified: 13 Jan 2020, 6:08 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.226

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Deafness, autosomal recessive 18B, MIM#614945

OMIM

604487

Clinvar variants

Variants in OTOG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTOG was added gene: OTOG was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOG were set to 23122587; 29800624 Phenotypes for gene: OTOG were set to Deafness, autosomal recessive 18B, MIM#614945

Deafness_Isolated Gene: OTOG