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| Short QT syndrome v1.4 | SCN10A | James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | SCN10A |
Ellen McDonagh Source North West GLH was added to SCN10A. Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A Publications for gene SCN10A were changed from 30177317; 29016797 to 30420954; 19862833; 16301704 |
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| Short QT syndrome v0.18 | SCN10A | Sarah Leigh Publications for gene: SCN10A were set to PMID:30177317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | SCN10A |
Sarah Leigh Source Brugada syndrome (Version 1.7) was added to SCN10A. Source Expert Review Red was added to SCN10A. Mode of inheritance for gene SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Red List (low evidence) |
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| Short QT syndrome v0.1 | SCN10A |
Jules Hancox gene: SCN10A was added gene: SCN10A was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: SCN10A was set to Unknown Publications for gene: SCN10A were set to PMID:30177317 Phenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT Review for gene: SCN10A was set to RED Added comment: This is a very recent report. The evidence that the index patient had short QT is high. Causality is inferred rather than demonstrated functionally through cellular electrophysiology. There is growing evidence for role of SCN10A in heart Despite the rating, I would recommend including this on the gene panel as the SQTS is rare and has a low success rate with targeted genotyping. It is possible that the association with SCN10A is stronger and so inclusion would be prudent Sources: Literature |
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