KRT14

keratin 14
OMIM: 148066, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KRT14 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Naegeli-Franceschetti-Jadassohn syndrome, 161000 Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) palmoplantar keratoderma Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Dowling-Meara type, 131760
Green KRT14 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760 Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000 Dermatopathia pigmentosa reticularis, OMIM:125595
Green KRT14 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.11	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes 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
Green KRT14 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 KRT14 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Naegeli-Franceschetti-Jadassohn syndrome 161000
Green KRT14 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Naegeli-Franceschetti-Jadassohn syndrome 161000
Green KRT14 in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes DPR Epidermolysis bullosa DERMATOPATHIA PIGMENTOSA RETICULARIS Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis
Green KRT14 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Koebner type, 131900 Naegeli-Franceschetti-Jadassohn syndrome, 161000 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, recessive 1, 601001