| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.27 | SLC39A4 | Zornitza Stark Marked gene: SLC39A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.27 | SLC39A4 | Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.27 | SLC39A4 | Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.27 | SLC39A4 | Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | SLC39A4 |
Paul De Fazio 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 Added comment: 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: Literature |
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