CFAP43

cilia and flagella associated protein 43
OMIM: 617558, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CFAP43 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hydrocephalus, normal pressure, 1 236690
  • Spermatogenic failure 19 617592

Green CFAP43 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydrocephalus, normal pressure, 1 236690
  • Spermatogenic failure 19 617592

Red CFAP43 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydrocephalus, normal pressure, 1 236690
  • Spermatogenic failure 19 617592