| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.45 | KRT2 | Zornitza Stark Marked gene: KRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.45 | KRT2 | Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.45 | KRT2 | Zornitza Stark Classified gene: KRT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.45 | KRT2 | Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.44 | KRT2 |
Ain Roesley gene: KRT2 was added gene: KRT2 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT2 were set to 26581228; 22612346 Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800) Penetrance for gene: KRT2 were set to unknown Review for gene: KRT2 was set to GREEN Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens. Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity. SEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age. PMID: 26581228; - 7 affecteds in 4 families > all missense variants PMID: 22612346; - 2 families > missense variants Sources: Literature |
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