FUZ

fuzzy planar cell polarity protein
OMIM: 610622, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red FUZ in Currarino triad


Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Neural tube defects
  • Sacral agenesis
Red FUZ in Familial Neural Tube Defects


Version 1.11

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Green FUZ 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
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
Phenotypes
  • Skeletal ciliopathy, MONDO:0005308
Red FUZ in Rare syndromic craniosynostosis or isolated multisuture synostosis


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469