ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17
OMIM: 607511, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ADAMTS17 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • GDL Glaucoma panel
Phenotypes
  • Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Green ADAMTS17 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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Weill-Marchesani syndrome type 4
    Green ADAMTS17 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 Green
    • PAGE Additional Gene List
    Phenotypes
    • Weill-Marchesani 4 syndrome, recessive, 613195
    Green ADAMTS17 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)