Rare genetic inflammatory skin disorders
Gene: SLC39A4EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 8 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SLC39A4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Acrodermatitis enteropathica, OMIM:201100
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ for gene: SLC39A4 Publications for gene SLC39A4 were changed from to 12068297
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SLC39A4.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SLC39A4 was added gene: SLC39A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica