1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. PKP1
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: PKP1

Green List (high evidence)
PKP1 (plakophilin 1)
EnsemblGeneIds (GRCh38): ENSG00000081277
EnsemblGeneIds (GRCh37): ENSG00000081277
OMIM: 601975, Gene2Phenotype
PKP1 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32248567
- 16 out of 18 probands presented with PPK
Sources: Literature
Created: 19 Aug 2020, 2:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ectodermal dysplasia/skin fragility syndrome (MIM#604536)

Publications

Created: 19 Aug 2020, 2:40 a.m.

Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
OMIM
601975
Clinvar variants
Variants in PKP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkp1 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkp1 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: PKP1 was added gene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PKP1 were set to 32248567 Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536) Penetrance for gene: PKP1 were set to unknown Review for gene: PKP1 was set to GREEN