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  2. Hereditary neuropathy or pain disorder
  3. JPH2
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Hereditary neuropathy or pain disorder

Gene: JPH2

Red List (low evidence)
JPH2 (junctophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000149596
EnsemblGeneIds (GRCh37): ENSG00000149596
OMIM: 605267, Gene2Phenotype
JPH2 is in 4 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: Imported from Hereditary neuropathy 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: Imported from Hereditary neuropathy 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: Imported from Hereditary neuropathy panel version 0

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:49 a.m.
Created: 9 Dec 2015, 8:49 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:05 p.m.
Created: 8 Dec 2015, 3:05 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Details

Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
OMIM
605267
Clinvar variants
Variants in JPH2
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: JPH2 was added gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: JPH2 was set to Phenotypes for gene: JPH2 were set to Cardiomyopathy