| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.92 | KRT2 | Zornitza Stark Marked gene: KRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.92 | KRT2 | Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.92 | KRT2 | Zornitza Stark Classified gene: KRT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.92 | KRT2 | Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | KRT2 | Zornitza Stark reviewed gene: KRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | KRT2 |
Paul De Fazio gene: KRT2 was added gene: KRT2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. 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 22612346; 26581228; 17970808 Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800) Review for gene: KRT2 was set to AMBER gene: KRT2 was marked as current diagnostic 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. PPK is not a feature of this disease. However, according to Cervantes et al (PMID: 22612346): "Another important difference between EI [epidermolytic ichthyosis] and SEI is palmoplantar keratoderma (PPK), which affects 60% of patients with EI but is never seen with SEI. Although blistering usually spares the palms and soles in SEI, some patients have shown involvement, making it difficult to determine the clinical difference between this and PPK in EI." One case report is in PMID: 17970808. I don't know if this belongs on this panel. Sources: Literature |
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