KRT14

PanelMode of inheritanceDetails
4 panels
R-numbers: R163
Signed-off version 1.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Naegeli-Franceschetti-Jadassohn syndrome 161000
R-numbers: R164
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
R-numbers: R165
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DPR, Epidermolysis bullosa, DERMATOPATHIA PIGMENTOSA RETICULARIS, Naegeli-Franceschetti-Jadassohn syndrome, Dermatopathia pigmentosa reticularis