Ectodermal dysplasia without a known gene mutation
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: 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: 0.77

Details

Mode of Inheritance

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

OMIM

601975

Clinvar variants

Variants in PKP1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4