XYLT1_GCC

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red XYLT1_GCC STR in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    • NGS Not Validated
    Red XYLT1_GCC STR in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    • NGS Not Validated