ADAMTS17

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ADAMTS17 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive MIM#613195

Green ADAMTS17 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195

Green ADAMTS17 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195

Green ADAMTS17 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195

Green ADAMTS17 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome type 4

Green ADAMTS17 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Weill-Marchesani syndrome type 4

    Green ADAMTS17 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Weill-Marchesani 4 syndrome, recessive, MIM# 613195