CEP76

centrosomal protein 76
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CEP76 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa
  • complex neurodevelopmental disorder MONDO:0100038
Tags
  • gene-checked