Deafness_IsolatedAndComplex
Gene: POU4F3
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
Gene: pou4f3 has been classified as Green List (High Evidence).
Phenotypes for gene: POU4F3 were changed from to Deafness, autosomal dominant 15, MIM# 602459
Publications for gene: POU4F3 were set to
Mode of inheritance for gene: POU4F3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: POU4F3 was added gene: POU4F3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: POU4F3 was set to Unknown