Monogenic hearing loss
Gene: POU3F4New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:47 p.m.
Inheritance: X-linkedCreated: 10 Apr 2018, 3:23 p.m.
Mode of inheritance
Other
Inheritance:X-linked recessiveCreated: 9 Feb 2016, 10:04 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessiveCreated: 7 Feb 2016, 8:53 a.m.
Mode of inheritance
Other
Phenotypes
#304400:Deafness, X-linked 2[Deafness, profoundHearing loss, conductiveHearing loss, sensorineural, progressiveWide bulbous internal auditory meatusDeficient or absent bone between the lateral end of the meatus and basal turn of the cochleaAbnormal communication between the subarachnoid space in the meatus and the perilymphStapes fixation]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:11 p.m.
There are well-documented position effects on this gene so deletions 5' to the structural gene reduce expressionCreated: 19 Oct 2015, 7:18 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for POU3F4 were set to PMID: 10464101; 10587581; 1783396; 1922747; 22139968; 23076972; 7581392; 7839145; 7911044; 8589693; 9109724; 9298820
Mode of inheritance for POU3F4 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
POU3F4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
POU3F4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
POU3F4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
POU3F4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
POU3F4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert