KRT14

keratin 14
OMIM: 148066, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KRT14 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.20	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert Review Green Victorian Clinical Genetics Services 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 1.2302	1 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	1 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	2 reviews	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	0 reviews	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	0 reviews	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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001 MONDO:0010976
Red KRT14 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3)