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  3. PKP1
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Ectodermal Dysplasia

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list
Created: 11 Mar 2020, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia/skin fragility syndrome MIM#604536

Publications

Created: 11 Mar 2020, 9:40 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome MIM#604536
OMIM
601975
Clinvar variants
Variants in PKP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PKP1 was added gene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP1 were set to 26288439; 9326952 Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536 Review for gene: PKP1 was set to GREEN