Epidermolysis bullosa and congenital skin fragility
Gene: PKP1Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosaCreated: 24 Mar 2021, 1:13 p.m. | Last Modified: 24 Mar 2021, 1:13 p.m.
Panel Version: 1.34
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.
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
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