ADAMTS18

ADAM metallopeptidase with thrombospondin type 1 motif 18
OMIM: 607512, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ADAMTS18 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Green ADAMTS18 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • KNOBLOCH SYNDROME 2 608454
    Green ADAMTS18 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions
    • Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
    Green ADAMTS18 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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458