CREB3L1

cAMP responsive element binding protein 3 like 1
OMIM: 616215, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CREB3L1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.46
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    Phenotypes
    • Osteogenesis imperfecta, type XVI 616229
    Green CREB3L1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.186
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XVI, 616229
    Green CREB3L1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    Phenotypes
    • Osteogenesis imperfecta, type XVI 616229