Hypertrophic cardiomyopathy - teen and adult

Gene: JPH2

Amber List (moderate evidence)

JPH2 (junctophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000149596
EnsemblGeneIds (GRCh37): ENSG00000149596
OMIM: 605267, Gene2Phenotype
JPH2 is in 3 panels

5 reviews

James Eden (Manchester)

I don't know

Gene not currently tested on Manchester cardiac gene panel. 16 variants listed on HGMD (accessed 19/09/2019). ClinGen Knowledge Base: moderate association with hypertrophic cardiomyopathy 17 (accessed 19/09/2019).
Created: 19 Sep 2019, 10:12 a.m. | Last Modified: 19 Sep 2019, 10:12 a.m.
Panel Version: 1.74

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

Phenotypes
Cardiomyopathy, hypertrophic, 17 (613873)

Publications

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, hypertrophic, 17 (605267 )
Created: 25 Mar 2019, 4:30 p.m.
Weak evidence for primary role in pathogenicity: 28082330. Insufficient evidence, no supporting segregation, despite functional assays. PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents were genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases. HGMD: 8 DM variants - 3 DCM rest HCM. Functional studies shown an effect in JPH2 but no variants with evidence of segregation. 10.1093/eurheartj/ehw603
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Moderate evidence for association in PMID:Gene on Royal Brompton diagnostic panel. A Likely pathogenic variation with good segregation reported in our lab
Created: 19 Mar 2019, 5:28 p.m.

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

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents wee genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases.
Created: 14 Aug 2017, 1:37 p.m.

Publications

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic 17,
Tags
watchlist
OMIM
605267
Clinvar variants
Variants in JPH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Sep 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: JPH2 were set to 28393127; 17509612; 17476457

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to JPH2. Mode of inheritance for gene JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to JPH2.

14 Aug 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for JPH2 were set to 28393127;17509612;17476457

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

JPH2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

JPH2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

JPH2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen