CFAP54

cilia and flagella associated protein 54
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CFAP54 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 98, MIM# 621124
  • Ciliary dyskinesia, primary, 54, MIM# 621125

Amber CFAP54 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 98, MIM# 621124
  • Hydrocephalus, male infertility, mucus accumulation