BRIDGE_SPEED_NEURO_v2.0_20160416
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)

omim_20150205_epilepsies; UKGTN_v12; neuro_20160418_strict; GOF
Created: 7 Feb 2017, 4:53 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Mode of pathogenicity
Other - please provide details in the comments

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

Created: 7 Feb 2017, 4:53 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

BRIDGE

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

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN9A was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source