ADAMTSL2

ADAMTS like 2
OMIM: 612277, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ADAMTSL2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Geleophysic dysplasia 1 231050
    Amber ADAMTSL2 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dermatosparaxic Ehlers Danlos syndrome
    Green ADAMTSL2 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
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Geleophysic dysplasia 1 231050
    Green ADAMTSL2 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GELEOPHYSIC DYSPLASIA 1