KRT1

keratin 1
OMIM: 139350, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green KRT1 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 Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Diffuse palmoplantar keratoderma triate keratoderma Epidermolytic hyperkeratosis, 113800 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 Ichthyosis histrix, Curth-Macklin type, 146590 Palmoplantar keratoderma, nonepidermolytic, 600962 Palmoplantar keratoderma, epidermolytic, 1 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 Palmoplantar keratoderma, epidermolytic, 1
Red KRT1 in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Epidermolytic hyperkeratosis, 113800 EHK Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Green KRT1 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 Palmoplantar keratoderma, nonepidermolytic, OMIM:600962 Palmoplantar keratoderma, epidermolytic, OMIM: 600962 Ichthyosis histrix, Curth-Macklin type, OMIM:146590 Epidermolytic hyperkeratosis, OMIM:113800 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Green KRT1 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Epidermolytic hyperkeratosis, OMIM:113800
Green KRT1 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ichthyosis histrix Palmoplantar keratoderma Epidermolytic hyperkeratosis
Amber KRT1 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Ichthyosis histrix Palmoplantar keratoderma Epidermolytic hyperkeratosis
Green KRT1 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epidermolytic hyperkeratosis Palmoplantar keratoderma Ichthyosis histrix