PanelApp (stage)
  1. Genes and Genomic Entities
  2. KRT1

KRT1

keratin 1
OMIM: 139350, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KRT1 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolytic hyperkeratosis (MIM#113800
  • Epidermolytic ichthyosis

Green KRT1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

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 1.1891

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 0.132

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KRT1 in Mosaic skin disorders


Level 2: Dermatological disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Ichthyosis histrix
    • Epidermolytic hyperkeratosis
    • Palmoplantar keratoderma
    Tags
    • somatic