Deafness_Isolated
Gene: OTOA

OTOA (otoancorin)
EnsemblGeneIds (GRCh38): ENSG00000155719
EnsemblGeneIds (GRCh37): ENSG00000155719
OMIM: 607038, Gene2Phenotype
OTOA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported, and a mouse model. DEFINITIVE by ClinGen.

OTOA has a pseudogene, which could contaminate the sequencing of the gene. Caution should be used when assessing the missense variants reported in OTOA, because they could be in the pseudogene.
Created: 1 Oct 2020, 1:03 a.m. | Last Modified: 1 Oct 2020, 1:03 a.m.

Panel Version: 0.521

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 22, MIM# 607039

Publications

Created: 1 Oct 2020, 1:03 a.m.
Last Modified: 1 Oct 2020, 1:03 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.521

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 22, MIM# 607039

Tags

SV/CNV

OMIM

607038

Clinvar variants

Variants in OTOA

Penetrance

None

Publications

Panels with this gene