KRT1

keratin 1
OMIM: 139350, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KRT1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

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 1.2

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 1.66
Latest signed off version: v1.3 (15 Oct 2020)

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 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800

Green KRT1 in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

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 1.40
Latest signed off version: v1.6 (15 Oct 2020)

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 1.5
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
  • Ichthyosis histrix