Activity
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| Ichthyosis and erythrokeratoderma v1.35 | KRT14 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) |
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| Ichthyosis and erythrokeratoderma v1.35 | KRT14 | Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | KRT14 |
Ellen McDonagh gene: KRT14 was added gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT14 were set to 9804355 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) |
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