KRT5

keratin 5
OMIM: 148040, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green KRT5 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.22	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 1, MIM# 179850 Epidermolysis bullosa simplex-MCR, MIM# 609352 Epidermolysis bullosa simplex-MP 131960 Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760 Epidermolysis bullosa simplex, Koebner type, MIM# 131900 Epidermolysis bullosa simplex, recessive 1, MIM# 601001 Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Green KRT5 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 1, MIM# 179850 Epidermolysis bullosa simplex-MCR, MIM# 609352 Epidermolysis bullosa simplex-MP 131960 Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760 Epidermolysis bullosa simplex, Koebner type, MIM# 131900 Epidermolysis bullosa simplex, recessive 1, MIM# 601001 Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Green KRT5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Green KRT5 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 KRT5 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Red KRT5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Dowling-Degos disease 1, MIM# 179850 Epidermolysis bullosa simplex-MCR, MIM# 609352 Epidermolysis bullosa simplex-MP 131960 Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760 Epidermolysis bullosa simplex, Koebner type, MIM# 131900 Epidermolysis bullosa simplex, recessive 1, MIM# 601001 Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Green KRT5 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease MONDO:0008371