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| Progressive cardiac conduction disease v1.27 | TRPM4 | Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, OMIM:604559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.26 | TRPM4 | Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725; 29748318; 30021168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.44 | TRPM4 | Ivone Leong Phenotypes for gene: TRPM4 were changed from PROGRESSIVE FAMILIAL HEART BLOCK, to Progressive familial heart block, type IB 604559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.43 | TRPM4 | Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.30 | TRPM4 | Ivone Leong reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | TRPM4 | James Eden reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29568272, 29748318, 30021168, 20562447; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | TRPM4 | Matthew Edwards reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.18 | TRPM4 | Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (604559) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | TRPM4 | Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.15 | TRPM4 | Ellen McDonagh Source South West GLH was added to TRPM4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.14 | TRPM4 | Ellen McDonagh edited their review of gene: TRPM4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.13 | TRPM4 | Ellen McDonagh Source London South GLH was added to TRPM4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.11 | TRPM4 | Ellen McDonagh Classified gene: TRPM4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.11 | TRPM4 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from the Oxford Medical Genetics Laboratory, provided by Kate McGuire. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.11 | TRPM4 | Ellen McDonagh Gene: trpm4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.9 | TRPM4 | Oxford Medical Genetics Laboratory reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19726882, 20562447, 21887725; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.8 | TRPM4 |
Ellen McDonagh gene: TRPM4 was added gene: TRPM4 was added to Progressive cardiac conduction disease. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725 Phenotypes for gene: TRPM4 were set to PROGRESSIVE FAMILIAL HEART BLOCK, |
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