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Short QT syndrome

Gene: SCN5A

Amber List (moderate evidence)
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels

5 reviews

James Eden (Manchester)

I don't know

See figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester.
Created: 25 Sep 2019, 1:30 p.m. | Last Modified: 25 Sep 2019, 1:30 p.m.
Panel Version: 1.20

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

Publications

Created: 25 Sep 2019, 1:30 p.m.
Last Modified: 25 Sep 2019, 1:30 p.m.
Panel version: 1.20

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

Very limited evidence
Created: 18 Sep 2019, 1:55 p.m. | Last Modified: 18 Sep 2019, 1:55 p.m.
Panel Version: 1.20
Created: 18 Sep 2019, 1:55 p.m.
Last Modified: 18 Sep 2019, 1:55 p.m.
Panel version: 1.20

Rebecca Whittington (South West GLH)

Red List (low evidence)

Various (not SQT)
Created: 25 Mar 2019, 4:30 p.m.
Does not appear to be associated with SQT on OMIM and HGMD
Created: 25 Mar 2019, 4:27 p.m.
Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.10

Sarah Leigh (Genomics England Curator)

Comment on list classification: Although this gene has been given an Expert review Green, to date there is only one case reported with short QT, hence the "watchlist" tag has been added and an Amber rating has been assigned.
Created: 19 Nov 2018, 12:09 p.m.
Created: 19 Nov 2018, 12:09 p.m.

Panel version: 0.22

Jules Hancox (University of Bristol)

Green List (high evidence)

Evidence of causality is there, but isolated case. Arguably "amber" evidence.

Loss of function
Sources: Literature
Created: 17 Oct 2018, 9:13 p.m.

Mode of inheritance
Unknown

Phenotypes
short qt; Brugada; family history of sudden death

Publications

Created: 17 Oct 2018, 9:13 p.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • North West GLH
  • Expert Review Amber
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Phenotypes
  • Ventricular fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Brugada syndrome 1 601144
  • Heart block, progressive, type IA (113900)
  • Heart block, nonprogressive (113900)
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Atrial fibrillation, familial, 10 (614022)
Tags
watchlist
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SCN5A.

14 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SCN5A. Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A Publications for gene SCN5A were changed from 22490985; 29697308 to 16301704; 30420954; 22490985

20 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: Evidence of causality is there

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn5a has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn5a has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: SCN5A.

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn5a has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCN5A were set to PMID: 22490985; 29697308

19 Nov 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCN5A were changed from short qt; Brugada; family history of sudden death to Brugada syndrome 1 601144

15 Nov 2018, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

Source Emory Genetics Laboratory was added to SCN5A. Source Long QT syndrome (Version 1.5) was added to SCN5A. Source Expert Review Green was added to SCN5A. Source Brugada syndrome (Version 1.7) was added to SCN5A. Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Green List (high 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: SCN5A was added gene: SCN5A was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: SCN5A was set to Unknown Publications for gene: SCN5A were set to PMID: 22490985; 29697308 Phenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death Review for gene: SCN5A was set to GREEN