AXIN1

axin 1
OMIM: 603816, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green AXIN1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681
    Amber AXIN1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Craniometadiaphyseal osteosclerosis with hip dysplasia, OMIM:620558
    Red AXIN1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • craniosynostosis, MONDO:0015469
    Red AXIN1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CAUDAL DUPLICATION ANOMALY, OMIM:607864
    Red AXIN1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.13
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert