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STRs in panel
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Cardiomyopathies - including childhood onset

Gene: JPH2

Green List (high evidence)

JPH2 (junctophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000149596
EnsemblGeneIds (GRCh37): ENSG00000149596
OMIM: 605267, Gene2Phenotype
JPH2 is in 5 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
OMIM
605267
Clinvar variants
Variants in JPH2
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: JPH2 was added gene: JPH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JPH2 was set to