Genomics England
GMS Panels
Panels
Genes and Entities

CBY1

chibby family member 1, beta catenin antagonist
OMIM: 607757
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Joubert syndrome, Cerebellar ataxia, Polydactyly, Molar tooth sign
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 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, cerebellar ataxia, molar tooth sign, polydactyly, Joubert syndrome