1. Genes and Genomic Entities
  2. CBY1

CBY1

chibby family member 1, beta catenin antagonist
OMIM: 607757, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CBY1 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual disability
    • cerebellar ataxia
    • molar tooth sign
    • polydactyly
    • Joubert syndrome
    Tags
    • gene-checked