Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: SCN4A

Green List (high evidence)

SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN4A gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for HYPOKALEMIC PERIODIC PARALYSIS, Confirmed for HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 and Confirmed for PARAMYOTONIA CONGENITA OF VON EULENBURG.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating for HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, and listed as All missense/in frame for HYPOKALEMIC PERIODIC PARALYSIS and PARAMYOTONIA CONGENITA OF VON EULENBURG.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARAMYOTONIA CONGENITA OF VON EULENBURG
  • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1
  • HYPOKALEMIC PERIODIC PARALYSIS
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to SCN4A. Rating Changed from Red List (low evidence) to Green List (high evidence)

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SCN4A. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG for gene: SCN4A

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 for gene: SCN4A

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SCN4A was added gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS