Hereditary Neuropathy_CMT - isolated
Gene: SCN9A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple types of painful and non-painful neuropathy associated with mono-allelic and bi-allelic variants in this channel gene.
Created: 13 May 2021, 8:26 p.m. | Last Modified: 13 May 2021, 8:26 p.m.

Panel Version: 0.170

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020

Created: 13 May 2021, 8:26 p.m.
Last Modified: 13 May 2021, 8:26 p.m.
Panel version: 0.170

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Erythermalgia, primary, MIM# 133020
Insensitivity to pain, congenital, MIM# 243000
Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000
Paroxysmal extreme pain disorder, MIM# 167400
Small fiber neuropathy,MIM# 133020

OMIM

603415

Clinvar variants

Variants in SCN9A

Penetrance

None

Panels with this gene

History Filter Activity

13 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn9a has been classified as Green List (High Evidence).

13 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN9A were changed from Erythermalgia, primary; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN9A was added gene: SCN9A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Erythermalgia, primary; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN

Hereditary Neuropathy_CMT - isolated Gene: SCN9A