KRT1:Ensemblv90

keratin 1
OMIM: 139350, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KRT1 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.22	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epidermolytic hyperkeratosis (MIM#113800 Epidermolytic ichthyosis
Green KRT1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 1.23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602 Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Green KRT1 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolytic hyperkeratosis, MIM#113800 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602 Ichthyosis histrix, Curth-Macklin type, MIM# 146590 Palmoplantar keratoderma, epidermolytic, MIM# 144200 Palmoplantar keratoderma, nonepidermolytic, MIM# 600962
Green KRT1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.137	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KRT1 in Mosaic skin disorders Level 2: Dermatological disorders Version 1.15 Component of the following Super Panels: Vascular Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Ichthyosis histrix Epidermolytic hyperkeratosis Palmoplantar keratoderma Tags somatic
Green KRT1 in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Phenotypes Epidermolytic hyperkeratosis (MIM#113800 Epidermolytic ichthyosis
Green KRT1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602 Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Green KRT1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services