Epidermolysis bullosa
Gene: PKP1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Comment on list classification: Changed status from red to green based on expert reviewer suggestion and evidence in the literatureCreated: 24 Apr 2017, 3:14 p.m.
Comment on mode of inheritance: updated MOI due to expert review and evidence in the literatureCreated: 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 2011Created: 24 Apr 2017, 3:13 p.m.
Comment on phenotypes: added suggestions from expert reviewer and synonyms in OMIMCreated: 24 Apr 2017, 3:06 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
PKP1 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Publications for PKP1 were set to 19945625; 25565931; 26288439; 28182260; 24073657
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PKP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for PKP1 were set to 19945625; 25565931;26288439;28182260
Phenotypes for PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
PKP1 was created by ellenmcdonagh
PKP1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing