FOXI3

forkhead box I3
OMIM: 612351, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green FOXI3 in Deafness and congenital structural abnormalities

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Congenital aural atresia
Amber FOXI3 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • T-cell lymphopenia
  • low TREC
  • thymic hypoplasia
Amber FOXI3 in Fetal anomalies


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Craniofacial microsomia 2, OMIM:620444
Red FOXI3 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • FOXI3-related microtia and craniofacial microsomia
    Green FOXI3 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bilateral Microtia
    • Congenital aural atresia