Epidermolysis bullosa

Gene: PKP1

Green List (high evidence)

PKP1 (plakophilin 1)
EnsemblGeneIds (GRCh38): ENSG00000081277
EnsemblGeneIds (GRCh37): ENSG00000081277
OMIM: 601975, Gene2Phenotype
PKP1 is in 2 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

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
24 Apr 2017, 3:14 p.m.
Comment on mode of inheritance: updated MOI due to expert review and evidence in the literature
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
24 Apr 2017, 3:13 p.m.
Comment on phenotypes: added suggestions from expert reviewer and synonyms in OMIM
24 Apr 2017, 3:06 p.m.

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

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Apr 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

PKP1 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

24 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PKP1 were set to 19945625; 25565931; 26288439; 28182260; 24073657

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PKP1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PKP1 were set to 19945625; 25565931;26288439;28182260

24 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PKP1 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PKP1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing