CFAP57

cilia and flagella associated protein 57
OMIM: 614259, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CFAP57 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Van der Woude Syndrome
  • Primary ciliary dyskinesia

Green CFAP57 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spermatogenic failure 95, MIM# 620917
  • Van der Woude Syndrome
  • Primary ciliary dyskinesia

Red CFAP57 in Fetal anomalies


Version 1.314

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Van der Woude syndrome
  • primary ciliary dyskinesia like