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Hypertrophic cardiomyopathy v1.83 TTR Ivone Leong Phenotypes for gene: TTR were changed from Cardiac amyloidosis to Cardiac amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210
Hypertrophic cardiomyopathy v1.81 TTR Ivone Leong reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.74 TTR Matthew Edwards reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475415; Phenotypes: Amyloidosis, hereditary, transthyretin-related OMIM 105210; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.56 TTR Ellen McDonagh Publications for gene: TTR were set to 28475415; 16115295; 16194874; 26537620; 1626570; 1570831
Hypertrophic cardiomyopathy v1.55 TTR Ellen McDonagh edited their review of gene: TTR: Added comment: The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations). Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976).; Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737
Hypertrophic cardiomyopathy v1.55 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Hypertrophic cardiomyopathy v1.53 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related (105210 )
Hypertrophic cardiomyopathy v1.52 TTR Rebecca Whittington commented on gene: TTR: 29567486 /28369730: HCM phenocopy. OMIM 105210 - hereditary, transthyretin-related Amyloidosis: cardiomyopathy associated with phenotype. Few DM variants on HGMD associated with cardiomyopathy, HCM only are VUS. 28635949: specific cardiac variants in this gene.
Hypertrophic cardiomyopathy v1.51 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.45 TTR Ellen McDonagh Source South West GLH was added to TTR.
Hypertrophic cardiomyopathy v1.44 TTR Ellen McDonagh edited their review of gene: TTR: 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 TTR Ellen McDonagh Source London South GLH was added to TTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Classified gene: TTR as Green List (high evidence)
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Added comment: Comment on list classification: Promoted to green following discussion with NHS GMS cardiology specialist group. Cardiac amyloidosis is associated with thickening of the ventricular wall which can resemble hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Gene: ttr has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Classified gene: TTR as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review and discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Gene: ttr has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.33 TTR Ellen McDonagh Publications for gene: TTR were set to
Hypertrophic cardiomyopathy v1.28 TTR Oxford Medical Genetics Laboratory edited their review of gene: TTR: Added comment: pathogenic variants in this gene cause Hereditary TTR amyloidosis. Affected individuals can present with left ventricular hypertrophy (LVH) that can mimic HCM. Recent study (PMID:28475415) found pathogenic varaint in this gene in 0.6% individuals in HCM cohort (n=697); Changed rating: GREEN; Changed publications: Publications supporting role of this gene in HCM - PMID: 28475415, PMID:16115295, PMID:16194874, PMID:26537620, PMID:1626570, PMID:1570831; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 TTR Ellen McDonagh Source Wessex and West Midlands GLH was added to TTR.
Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted