CFAP52

cilia and flagella associated protein 52
OMIM: 609804, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CFAP52 in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • visceral heterotaxy, MONDO:0018677
Green CFAP52 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
Phenotypes
  • Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607