PKP1

plakophilin 1
OMIM: 601975, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PKP1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • McGrath Syndrome
  • Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Green PKP1 in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Green PKP1 in Ectodermal dysplasia


Version 3.28
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Green PKP1 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Green PKP1 in Palmoplantar keratodermas


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders