Ectodermal dysplasia
Gene: PKP1

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

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.

Created: 25 Jul 2016, 8:48 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.77

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

Ectodermal dysplasia Gene: PKP1