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Deafness_Isolated

Gene: POU3F4

Green List (high evidence)
POU3F4 (POU class 3 homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000196767
EnsemblGeneIds (GRCh37): ENSG00000196767
OMIM: 300039, Gene2Phenotype
POU3F4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery.
Created: 27 Feb 2020, 2:12 a.m. | Last Modified: 27 Feb 2020, 2:12 a.m.
Panel Version: 0.316

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

Phenotypes
Deafness, X-linked 2, MIM# 304400

Publications

Created: 27 Feb 2020, 2:12 a.m.
Last Modified: 27 Feb 2020, 2:12 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.316

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, X-linked 2, MIM# 304400
OMIM
300039
Clinvar variants
Variants in POU3F4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pou3f4 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POU3F4 was added gene: POU3F4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POU3F4 were set to 31786483; 30176854 Phenotypes for gene: POU3F4 were set to Deafness, X-linked 2, MIM# 304400