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  2. Hereditary neuropathy
  3. PKP2
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Hereditary neuropathy

Gene: PKP2

Red List (low evidence)
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: 1.63

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Cardiomyopathy

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:50 a.m.
Created: 9 Dec 2015, 8:50 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Created: 8 Dec 2015, 3:06 p.m.

Panel version: 0

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy for gene: PKP2

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PKP2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PKP2.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PKP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory