CELSR1

cadherin EGF LAG seven-pass G-type receptor 1
OMIM: 604523, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CELSR1 in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Lymphatic malformation 9, OMIM:619319
Red CELSR1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CELSR1-related fetal hydrops
    Red CELSR1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green CELSR1 in Primary lymphoedema


    Level 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphatic malformation 9, OMIM:619319