Epidermolysis bullosa
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, but classified as Epidermolysis bullosa

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from red to green based on expert reviewer suggestion and evidence in the literature
Created: 24 Apr 2017, 3:14 p.m.

Comment on mode of inheritance: updated MOI due to expert review and evidence in the literature
Created: 24 Apr 2017, 3:14 p.m.

Comment on publications: Added recent publications to support association to disorder with EB/skin fragility phenotype since OMIM entry last updated 2011
Created: 24 Apr 2017, 3:13 p.m.

Comment on phenotypes: added suggestions from expert reviewer and synonyms in OMIM
Created: 24 Apr 2017, 3:06 p.m.

Created: 24 Apr 2017, 3:06 p.m.

Panel version: 0.70

Details

Mode of Inheritance

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

OMIM

601975

Clinvar variants

Variants in PKP1

Penetrance

Complete

Publications

Panels with this gene