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  3. PKP1
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Epidermolysis bullosa and congenital skin fragility

Gene: PKP1

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Created: 24 Mar 2021, 1:13 p.m. | Last Modified: 24 Mar 2021, 1:13 p.m.
Panel Version: 1.34
Created: 24 Mar 2021, 1:13 p.m.
Last Modified: 24 Mar 2021, 1:13 p.m.
Panel version: 1.34

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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0.70

Details

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

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536

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 Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP1 were set to 19945625; 25565931; 28182260; 26288439; 24073657 Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa