Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Progressive cardiac conduction disease v1.14 DES Ivone Leong Publications for gene: DES were set to
Progressive cardiac conduction disease v1.7 DES Ivone Leong Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v0.30 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.29 DES Ivone Leong Source Expert Review Green was added to DES.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.28 DES James Eden changed review comment from: No association with conduction disease on OMIM but three missense variants have been associated with cardiomyopathy with atrioventricular block in the literature: c.46C>T p.(Arg16Cys), c.1237G>A p.(Glu413Lys), c.1358C>T p.(Thr453Ile).; to: No association with conduction disease on OMIM but three missense variants have been associated with cardiomyopathy with atrioventricular block in HGMD: c.46C>T p.(Arg16Cys), c.1237G>A p.(Glu413Lys), c.1358C>T p.(Thr453Ile).
Progressive cardiac conduction disease v0.28 DES James Eden reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: None; Publications: 16376610, 16890305; Phenotypes: Cardiomyopathy, dilated, 1I 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.28 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Progressive cardiac conduction disease v0.22 DES Ivone Leong Classified gene: DES as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.22 DES Ivone Leong Gene: des has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.18 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I (604765)
Progressive cardiac conduction disease v0.17 DES Rebecca Whittington commented on gene: DES: As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 TRPM4 Rebecca Whittington commented on gene: TRPM4: In cellular expression systems, mutant TRPM4 channels produce a larger current than wt (GoF). 4 families identified. Hypothesised GoF mutant channels lead to cell membrane depolarisation in the conduction system, therefore reducing number of Na channels and resulting in conduction abnormality. Functional experiments expressing these three mutant variants of TRPM4 suggested a similar gain-of-function phenomenon related to altered deSUMOylation 21887725. 20562447
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.17 KCNK17 Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929
Progressive cardiac conduction disease v0.16 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Progressive cardiac conduction disease v0.15 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive cardiac conduction disease v0.5 DES Anna de Burca gene: DES was added
gene: DES was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Desminopathy-associated AV conduction block
Review for gene: DES was set to AMBER
Added comment: Sources: Expert list