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Deafness_IsolatedAndComplex

Gene: POU4F3

Green List (high evidence)

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

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

History Filter Activity

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pou4f3 has been classified as Green List (High Evidence).

2 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POU4F3 were changed from to Deafness, autosomal dominant 15, MIM# 602459

2 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POU4F3 were set to

2 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POU4F3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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