Epidermolysis bullosa and congenital skin fragility
Gene: SLC39A4
SLC39A4 (solute carrier family 39 member 4)
EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 8 panels
1 review
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team SLC39A4 can be classified as Green.Created: 4 Dec 2019, 10:32 a.m. | Last Modified: 4 Dec 2019, 10:32 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.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: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Acrodermatitis enteropathica, OMIM:201100
- OMIM
- 607059
- Clinvar variants
- Variants in SLC39A4
- Penetrance
- None
- 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
24 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
4 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slc39a4 has been classified as Green List (High Evidence).
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: SLC39A4 was added gene: SLC39A4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal