Ectodermal dysplasia

Gene: PKP1

Green List (high evidence)

PKP1 (plakophilin 1)
EnsemblGeneIds (GRCh38): ENSG00000081277
EnsemblGeneIds (GRCh37): ENSG00000081277
OMIM: 601975, Gene2Phenotype
PKP1 is in 5 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, skin fragility syndrome

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to a green expert review, two cases reported in OMIM with additional more recent cases (see publications).
Created: 25 Jul 2016, 8:48 a.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • Ectodermal Dysplasia/Skin Fragility Syndrome
OMIM
601975
Clinvar variants
Variants in PKP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PKP1 was added gene: PKP1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP1 were set to 25565931; 22309335; 24073657 Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; Ectodermal Dysplasia/Skin Fragility Syndrome