SLC39A13

solute carrier family 39 member 13
OMIM: 608735, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC39A13 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350

Green SLC39A13 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350

Green SLC39A13 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350

Green SLC39A13 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.47

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873
    • Disorders of zinc metabolism

    Red SLC39A13 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350)