FUZ

fuzzy planar cell polarity protein
OMIM: 610622, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FUZ in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy

Green FUZ in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy

Green FUZ in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Neural tube defects, susceptibility to} MIM#182940
  • craniosynostosis, FUZ-related MONDO#0015469
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy

Green FUZ in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


Level 2: Skeletal disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy

Green FUZ in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy

Green FUZ in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neural tube defects 182940
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy