SLC39A4

solute carrier family 39 member 4
OMIM: 607059, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SLC39A4 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acrodermatitis enteropathica, 201100

Green SLC39A4 in Epidermolysis bullosa and congenital skin fragility


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green

Green SLC39A4 in Rare genetic inflammatory skin disorders


Version 1.6
Signed off v.1.5 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica
  • ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
  • AEZ

Green SLC39A4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acrodermatitis enteropathica (Disorder of zinc metabolism)
  • Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Tags
  • treatable

Green SLC39A4 in Inborn errors of metabolism


Version 2.12
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Acrodermatitis enteropathica (Disorder of zinc metabolism)
    • Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)

    Red SLC39A4 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC39A4 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acrodermatitis enteropathica, 201100