Epidermolysis bullosa
Gene: PKP1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 13 Feb 2021, 2:21 a.m. | Last Modified: 13 Feb 2021, 2:21 a.m.

Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia/skin fragility syndrome, MIM# 604536

Publications

Created: 13 Feb 2021, 2:21 a.m.
Last Modified: 13 Feb 2021, 2:21 a.m.
Panel version: 0.67

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list
Created: 11 Mar 2020, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia/skin fragility syndrome MIM#604536

Publications

Created: 11 Mar 2020, 9:40 a.m.

Panel version: Imported from Ectodermal Dysplasia panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
Victorian Clinical Genetics Services

Phenotypes

Ectodermal dysplasia/skin fragility syndrome, MIM# 604536

OMIM

601975

Clinvar variants

Variants in PKP1

Penetrance

None

Publications

Panels with this gene