SLC39A4

solute carrier family 39 member 4
OMIM: 607059, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red SLC39A4 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.13

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


Level 2: Dermatology
Version 2.13
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Green SLC39A4 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Green SLC39A4 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.16
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Amber SLC39A4 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
  • Disorder of zinc metabolism
Tags
  • Q3_25_promote_green
Green SLC39A4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

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 Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

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