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Epidermolysis bullosa v0.70 | PKP1 | Zornitza Stark Marked gene: PKP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.70 | PKP1 | Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.70 | PKP1 | Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.69 | PKP1 | Zornitza Stark Publications for gene: PKP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.68 | PKP1 | Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.67 | PKP1 | Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidermolysis bullosa v0.0 | PKP1 |
Zornitza Stark gene: PKP1 was added gene: PKP1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PKP1 was set to Unknown |