1. Genes and Genomic Entities
  2. CBY1

CBY1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CBY1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Joubert syndrome
  • Cerebellar ataxia
  • Polydactyly
  • Molar tooth sign
Tags
  • gene-checked
Green CBY1 in Neurological ciliopathies


Level 2: Neurology
Version 6.13
Latest signed off version: v6.0 (30 Apr 2025)

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