SULF1

sulfatase 1
OMIM: 610012, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SULF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Mesomelia-synostoses syndrome 600383
    • Mesomelia-synostoses syndrome 600383
    Tags
    • deletions
    No list SULF1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed