Short QT syndrome

Gene: SCN10A

Red List (low evidence)

SCN10A (sodium voltage-gated channel alpha subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000185313
EnsemblGeneIds (GRCh37): ENSG00000185313
OMIM: 604427, Gene2Phenotype
SCN10A is in 6 panels

2 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 85 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Episodic pain syndrome, familial, 2 (615551)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Jules Hancox (University of Bristol)

Red List (low evidence)

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
Created: 17 Oct 2018, 9:26 p.m.

Mode of inheritance
Unknown

Phenotypes
sudden death; J wave syndrome; short QT

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Expert Review Red
  • Brugada syndrome (Version 1.7)
Phenotypes
  • J wave syndrome
  • short QT
  • Episodic pain syndrome, familial, 2 (615551)
  • sudden death
OMIM
604427
Clinvar variants
Variants in SCN10A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: This is a very recent report.

19 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCN10A were set to PMID:30177317

15 Nov 2018, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Status Update

Sarah Leigh (Genomics England Curator)

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)

17 Oct 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Jules Hancox (University of Bristol)

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