Rare genetic inflammatory skin disorders
Gene: SLC39A4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
Publications
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
Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Added phenotypes ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ for gene: SLC39A4 Publications for gene SLC39A4 were changed from to 12068297
Source London North GLH was added to SLC39A4.
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