KRT14

keratin 14
OMIM: 148066, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KRT14 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, Koebner type, 131900 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Naegeli-Franceschetti-Jadassohn syndrome, 161000
Green KRT14 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, Koebner type, 131900 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Naegeli-Franceschetti-Jadassohn syndrome, 161000
Green KRT14 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000) Dermatopathia pigmentosa reticularis (MIM#125595)
Green KRT14 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Naegeli-Franceschetti-Jadassohn syndrome MIM#161000 Dermatopathia pigmentosa reticularis MIM#125595
Green KRT14 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Green KRT14 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa simplex
Green KRT14 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Red KRT14 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, Koebner type, 131900 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Naegeli-Franceschetti-Jadassohn syndrome, 161000
Green KRT14 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3)