| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa and congenital skin fragility v1.29 | KRT14 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.29 | KRT14 | Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | KRT14 |
Ellen McDonagh gene: KRT14 was added gene: KRT14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT14 were set to 7506606; 7526933; 12485428; 7525408; 10733662; 16960809; 1720261; 7682883; 7561171; 1717157; 16098032 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||