1. Genes and Genomic Entities
  2. CTNNB1

CTNNB1

catenin beta 1
OMIM: 116806, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
No list CTNNB1 in Multiple monogenic benign skin tumours


Level 2: Dermatology
Version 2.8
Latest signed off version: v2.7 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Pilomatrixomas
Tags
  • curated_removed
Green CTNNB1 in Severe microcephaly


Level 2: Neurology
Version 9.26
Latest signed off version: v9.13 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Green CTNNB1 in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.7 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Green CTNNB1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.4
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Green CTNNB1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
    Green CTNNB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
    Green CTNNB1 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Exudative vitreoretinopathy 7, OMIM:617572