POU3F4

POU class 3 homeobox 4
OMIM: 300039, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green POU3F4 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5 (13 Feb 2020)

review 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

Green POU3F4 in Severe Paediatric Disorders


Version 1.127

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, X-linked 2, 304400