CFAP43

cilia and flagella associated protein 43
OMIM: 617558, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CFAP43 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 19, 617592
Red CFAP43 in Childhood onset dystonia, chorea or related movement disorder


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review Not set
Sources
  • Expert Review Red
  • London North GLH