BRIDGE_SPEED_NEURO_20170705
Gene: SCN9A

SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels

1 review

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_omim_20150205_epilepsies;in_UKGTN_v12 . Main mutation mechanism : GOF
Created: 28 Jul 2017, 10:43 a.m.

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

Publications

omim.org
Version 12 ukgtn.nhs.uk

Mode of pathogenicity
Other

Created: 2 Aug 2017, 6:53 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Erythermalgia, primary, 133020
Paroxysmal extreme pain disorder, 167400,
Insensitivity to pain, congenital, 243000
Febrile seizures, familial, 3B, 613863
Epilepsy, generalized, with febrile seizures plus, type 7, 613863
Small fiber neuropathy, 133020
{Dravet syndrome, modifier of}, 607208
HSAN2D, autosomal recessive, 243000

OMIM

603415

Clinvar variants

Variants in SCN9A

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SCN9A was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created