CBY1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CBY1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome

Green CBY1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome

Green CBY1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome, MONDO:0018772, CBY1-related

Green CBY1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome

Green CBY1 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual disability
    • cerebellar ataxia
    • molar tooth sign
    • polydactyly
    • Joubert syndrome