COL27A1

collagen type XXVII alpha 1 chain
OMIM: 608461, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green COL27A1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.3
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Steel syndrome, OMIM:615155
    Amber COL27A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Steel syndrome, OMIM:615155
    Green COL27A1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Steel Syndrome