| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa and congenital skin fragility v1.34 | PKP1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.34 | PKP1 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | PKP1 |
Ellen McDonagh 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||