Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC39A4EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 8 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Added to this panel per suggestion of the Genomics England Clinical Team as features of acrodermatitis enteropathica overlap with immunodeficiency. This gene is already green on several GMS panels and therefore can be promoted to green on this panel at the next GMS panel update.Created: 29 Oct 2025, 2:13 p.m. | Last Modified: 29 Oct 2025, 2:13 p.m.
Panel Version: 8.65
Sarah Leigh (Genomics England Curator)
Comment on "Treatable" tag: The condition may present with failure to thrive, diarrhea, and dermatitis, and, if untreated, may evolve to include other sequelae of zinc deficiency, including immunodeficiency and neurologic manifestations, and medical management (eg, treatment with oral zinc therapy) can be effectiveCreated: 20 Mar 2017, 4:09 p.m.
Arianna Tucci (Genomics England Curator)
More than 3 families described with the relevant phenotype and biallelic variantsCreated: 23 Feb 2017, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- London North GLH
- Phenotypes
-
- Acrodermatitis enteropathica, OMIM:201100
- Disorder of zinc metabolism
- Tags
- OMIM
- 607059
- Clinvar variants
- Variants in SLC39A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Generalised pustular psoriasis
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Epidermolysis bullosa and congenital skin fragility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- Undiagnosed metabolic disorders
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) to Acrodermatitis enteropathica, OMIM:201100; Disorder of zinc metabolism
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: SLC39A4.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: SLC39A4 was added gene: SLC39A4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 27604308 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)