FGF3

fibroblast growth factor 3
OMIM: 164950, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green FGF3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • 610706
  • Hearing loss panel
  • Deafness, congenital with inner ear agenesis, microtia and microdontia, 610706
  • labyrinthine aplasia, microdontia, microtia
Green FGF3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Red FGF3 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review Not set
Sources
  • NHS GMS
Phenotypes
  • congenital deafness with inner ear agenesis, microtia and microdontia
Green FGF3 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706
    Green FGF3 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    • #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
    Red FGF3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706