Epidermolysis bullosa
Gene: SLC39A4EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 11 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Well-established gene-disease association. PMID:19370757 summarises 22 families with identified biallelic variants as of 2009 (although some families have only one or no variants identified).
Disease is characterised by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous.
Sources: LiteratureCreated: 10 Aug 2020, 1:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrodermatitis enteropathica (MIM#201100)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Acrodermatitis enteropathica (MIM#201100)
- OMIM
- 607059
- Clinvar variants
- Variants in SLC39A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Epidermolysis bullosa
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc39a4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc39a4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SLC39A4 was added gene: SLC39A4 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 19370757 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (MIM#201100) Review for gene: SLC39A4 was set to GREEN gene: SLC39A4 was marked as current diagnostic