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  2. Dilated Cardiomyopathy (DCM)
  3. SCN5A
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Dilated Cardiomyopathy (DCM)

Gene: SCN5A

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on publications: Promoter variant reported in PMID: 28391114 in a 16-year-old female who died during sleep.
Created: 14 Aug 2017, 1:47 p.m.
Created: 14 Aug 2017, 1:47 p.m.

Panel version: 1.32

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 11 Feb 2016, 2:17 p.m.
Created: 11 Feb 2016, 2:17 p.m.

Panel version: 0.7

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

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

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1E
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Aug 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN5A were set to 28391114

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN5A was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN5A was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN5A was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN5A was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list