SLC39A13:Ensemblv90

solute carrier family 39 member 13
OMIM: 608735, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC39A13 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

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

Green SLC39A13 in Mendeliome


Version 1.3802

1 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 0.365

1 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 Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 1.4

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
  • Spondylodysplastic EDS

Green SLC39A13 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.52

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 0 reviews 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 1.482

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

    Green SLC39A13 in Aortopathy_Connective Tissue Disorders


    Level 2: Cardiovascular disorders
    Version 2.0

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

    Green SLC39A13 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Green SLC39A13 in Ehlers Danlos syndromes


    Level 2: Cardiovascular disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • International EDS Consortium
    • Literature
    Phenotypes
    • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
    • Spondylodysplastic EDS

    Green SLC39A13 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873
    • Disorders of zinc metabolism