CFAP43

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber CFAP43 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.63	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Hydrocephalus, normal pressure, 1 236690 Spermatogenic failure 19 617592 Tags disputed
Amber CFAP43 in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hydrocephalus, normal pressure, 1 236690 Spermatogenic failure 19 617592
Red CFAP43 in Fetal anomalies Version 1.465	1 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

3 panels