Epidermolysis bullosa and congenital skin fragility
Gene: KRT14Comment 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, LocalizedCreated: 24 Mar 2021, 12:59 p.m. | Last Modified: 24 Mar 2021, 12:59 p.m.
Panel Version: 1.29
Comment on list classification: changed status from Amber to Green due to reviewer comments and evidence in the literatureCreated: 20 Apr 2017, 3:50 p.m.
Comment on publications: added publications to support cases (3 or more unrelated cases):
Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;
PMID: 1717157; 10733662
Epidermolysis bullosa simplex, Koebner type (AD), 131900;
PMID: 1720261;7682883
Weber-Cockayne type (AD), 131800
PMID:7506606,16098032,12485428
Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000
PMID: 16960809
Epidermolysis bullosa simplex, recessive 1 (AR), 601001;
PMID:7526933;7525408,7561171Created: 20 Apr 2017, 3:49 p.m.
Comment on phenotypes: revised phenotypes added synonyms and MOI specific to disorderCreated: 20 Apr 2017, 2:55 p.m.
Comment on mode of inheritance: added MOI based on reviewer comment and evidence in the literatureCreated: 20 Apr 2017, 2:45 p.m.
mostly AD - EB simplex - occasionally AR - EB Simplex - some other mutations can cause non-EB Naegeli-Franceschetti-Jadassohn ectodermal dysplasiaCreated: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
autosomal dominant Epidermolysis bullosa simplex; occasionally Autosomal recessive Epidermolysis bullosa Simplex; non-EB Naegeli-Franceschetti-Jadassohn ectodermal dysplasia
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
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