PKP1

plakophilin 1
OMIM: 601975, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PKP1 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.11	review	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
Green PKP1 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Green PKP1 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia/skin fragility syndrome, 604536 Ectodermal Dysplasia/Skin Fragility Syndrome
Green PKP1 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Ectodermal dysplasia/skin fragility syndrome, 604536 Ectodermal Dysplasia/Skin Fragility Syndrome
Green PKP1 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Desmosomal disorders