Monogenic hearing loss
Gene: POU4F3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:46 p.m.
Comment on mode of inheritance: Not on the imprinted gene list.Created: 17 Feb 2016, 5:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#602459:Deafness, autosomal dominant 15[Hearing loss, postlingual sensorineuralDownward sloping or flat audiogram]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:11 p.m.
Publications for POU4F3 were set to PMID: 14585957; 15254021; 18228599; 20434433; 24260153; 7623109; 8637595; 9256502; 9506947
Mode of inheritance for POU4F3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene POU4F3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POU4F3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene POU4F3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POU4F3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene POU4F3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POU4F3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
POU4F3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert