Epidermolysis bullosa
Gene: KRT14Comment 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
Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for KRT14 were set to 1717157;10733662;1720261;7682883;7506606;16098032;12485428;16960809;7526933;7525408;7561171
Phenotypes for KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Epidermolysis Bullosa Simplex, Localized; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Dermatopathia pigmentosa reticularis (AD), 125595
Phenotypes for KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800 Epidermolysis Bullosa Simplex, Localized; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Dermatopathia pigmentosa reticularis (AD), 125595
Mode of inheritance for KRT14 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KRT14 was added to Epidermolysis bullosapanel. Source: UKGTN
KRT14 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
KRT14 was created by ellenmcdonagh
KRT14 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing