Genomics England
GMS Panels
Panels
Genes and Entities

CBY1

chibby family member 1, beta catenin antagonist
OMIM: 607757
PanelMode of inheritanceDetails
1 panel
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, cerebellar ataxia, molar tooth sign, polydactyly, Joubert syndrome