Deafness_IsolatedAndComplex
Gene: POU4F3

POU4F3 (POU class 4 homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000091010
EnsemblGeneIds (GRCh37): ENSG00000091010
OMIM: 602460, Gene2Phenotype
POU4F3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The hearing loss in DFNA15 individuals is progressive, with a highly variable age of onset between the second and fifth decades of life. The mechanism for disease is likely haploinsufficiency, due to the wide variant spectrum, however mice require only one copy of the functional gene to retain hearing. Over 80 affected individuals reported. Gene-disease association is supported by multiple lines of functional evidence. DEFINITIVE by ClinGen.
Created: 2 Oct 2020, 10:20 a.m. | Last Modified: 2 Oct 2020, 10:25 a.m.

Panel Version: 0.548

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 15, MIM# 602459

Publications

Created: 2 Oct 2020, 10:20 a.m.
Last Modified: 2 Oct 2020, 10:25 a.m.
Panel version: 0.545

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Deafness, autosomal dominant 15, MIM# 602459

OMIM

602460

Clinvar variants

Variants in POU4F3

Penetrance

None

Publications

Panels with this gene