1. Genes and Genomic Entities
  2. SLC39A13

SLC39A13

solute carrier family 39 member 13
OMIM: 608735, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red SLC39A13 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
Red SLC39A13 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Green SLC39A13 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
    Green SLC39A13 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
    Red SLC39A13 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
    • EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA
    No list SLC39A13 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
    Green SLC39A13 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668
    Amber SLC39A13 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
    Green SLC39A13 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350