Generalised pustular psoriasis
Gene: SLC39A4EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 8 panels
3 reviews
catherine smith (Guys and St Thomas' NHS Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 12 variants reported. The phenotype does not appear to be relevant for this panel as it is dermatitis rather than psoriasisCreated: 4 Nov 2016, 1:14 p.m.
Comment on list classification: Phenotype not relevant for this panelCreated: 4 Nov 2016, 1:14 p.m.
Francesca Capon (King's College London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Acrodermatitis enteropathica, 201100
- OMIM
- 607059
- Clinvar variants
- Variants in SLC39A4
- Penetrance
- Complete
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 24/11/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC39A4 were set to Acrodermatitis enteropathica, 201100
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC39A4 were set to Acrodermatitis enteropathica, 201100
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC39A4 was added to Generalised pustular psoriasispanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SLC39A4 was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen