Genomics England

keratin 14

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Ectodermal dysplasia R-numbers: R163 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Naegeli-Franceschetti-Jadassohn syndrome 161000
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes 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
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760, Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000, Dermatopathia pigmentosa reticularis, OMIM:125595
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes DPR, Epidermolysis bullosa, DERMATOPATHIA PIGMENTOSA RETICULARIS, Naegeli-Franceschetti-Jadassohn syndrome, Dermatopathia pigmentosa reticularis