1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. SCN4A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BRIDGE_SPEED_NEURO_20170705

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Activating; All missense/in frame
Created: 28 Jul 2017, 10:43 a.m.

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

Publications

Mode of pathogenicity

Created: 2 Aug 2017, 6:52 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:22 p.m.
Created: 31 Jul 2017, 2:22 p.m.

Panel version: 0.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Paramyotonia congenita, 168300
  • Myotonia congenita, atypical, acetazolamide-responsive, 608390
  • Myasthenic syndrome, acetazolamide-responsive, 614198
  • Hypokalemic periodic paralysis, type 2, 613345
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SCN4A were set to Hyperkalemic periodic paralysis, type 2, 170500; Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Myasthenic syndrome, acetazolamide-responsive, 614198; Hypokalemic periodic paralysis, type 2, 613345

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SCN4A was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SCN4A was created by LouiseD