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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) |
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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 |
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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 |