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Cardiac conduction disease v1.3 MRC2 Krithika Murali changed review comment from: Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells.
Sources: Literature; to: PMID: 38953222 - Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells.
Sources: Literature
Cardiac conduction disease v1.3 MRC2 Krithika Murali Publications for gene: MRC2 were set to
Cardiac conduction disease v1.2 MRC2 Krithika Murali Marked gene: MRC2 as ready
Cardiac conduction disease v1.2 MRC2 Krithika Murali Gene: mrc2 has been classified as Red List (Low Evidence).
Cardiac conduction disease v1.2 MRC2 Krithika Murali gene: MRC2 was added
gene: MRC2 was added to Cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: MRC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MRC2 were set to Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related
Review for gene: MRC2 was set to RED
Added comment: Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells.
Sources: Literature