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Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova Tag Q3_22_rating was removed from gene: JPH2.
Tag Q3_22_expert_review was removed from gene: JPH2.
Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v3.2 JPH2 Arina Puzriakova Source NHS GMS was added to JPH2.
Source Expert Review Amber was added to JPH2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.41 JPH2 Eleanor Williams commented on gene: JPH2
Hypertrophic cardiomyopathy v2.41 JPH2 Eleanor Williams Tag Q2_21_expert_review was removed from gene: JPH2.
Tag Q3_22_rating tag was added to gene: JPH2.
Tag Q3_22_expert_review tag was added to gene: JPH2.
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong commented on gene: JPH2: This gene has been tagged and will be submitted for review by the GMS expert group.
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17 (613873) to Cardiomyopathy, hypertrophic, 17, OMIM:613873
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346; 23973696; 26869393; 28393127; 30235249
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346
Hypertrophic cardiomyopathy v2.18 JPH2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: JPH2.
Hypertrophic cardiomyopathy v2.11 JPH2 Zornitza Stark reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v2.1 JPH2 Louise Daugherty Tag watchlist was removed from gene: JPH2.
Hypertrophic cardiomyopathy v2.1 JPH2 Louise Daugherty commented on gene: JPH2
Hypertrophic cardiomyopathy v1.94 JPH2 Ivone Leong Source Expert Review Green was added to JPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.93 JPH2 Kate Thomson reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.88 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17, to Cardiomyopathy, familial hypertrophic 17 (613873)
Hypertrophic cardiomyopathy v1.81 JPH2 Ivone Leong reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.74 JPH2 James Eden reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17509612; Phenotypes: Cardiomyopathy, hypertrophic, 17 (613873); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.58 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457
Hypertrophic cardiomyopathy v1.53 JPH2 Rebecca Whittington commented on gene: JPH2: Cardiomyopathy, hypertrophic, 17 (605267 )
Hypertrophic cardiomyopathy v1.52 JPH2 Rebecca Whittington commented on gene: JPH2: 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
Hypertrophic cardiomyopathy v1.51 JPH2 Rebecca Whittington reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.50 JPH2 Matthew Edwards reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.45 JPH2 Ellen McDonagh Source South West GLH was added to JPH2.
Mode of inheritance for gene JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.44 JPH2 Ellen McDonagh edited their review of gene: JPH2: Added comment: 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.; Changed rating: AMBER
Hypertrophic cardiomyopathy v1.43 JPH2 Ellen McDonagh Source London South GLH was added to JPH2.
Hypertrophic cardiomyopathy JPH2 Ellen McDonagh reviewed JPH2