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Hearing loss

Gene: POU3F4

Green List (high evidence)

POU3F4 (POU class 3 homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000196767
EnsemblGeneIds (GRCh37): ENSG00000196767
OMIM: 300039, Gene2Phenotype
POU3F4 is in 1 panel

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:47 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Inheritance: X-linked
Created: 10 Apr 2018, 3:23 p.m.

Mode of inheritance
Other

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:04 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:11 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

There are well-documented position effects on this gene so deletions 5' to the structural gene reduce expression
Created: 19 Oct 2015, 7:18 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Deafness, X-linked 2, 304400
  • hearing loss
  • Nonsyndromic Hearing Loss, X-Linked
OMIM
300039
Clinvar variants
Variants in POU3F4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POU3F4 were set to PMID: 10464101; 10587581; 1783396; 1922747; 22139968; 23076972; 7581392; 7839145; 7911044; 8589693; 9109724; 9298820

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for POU3F4 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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