1. Panels
  2. Pain syndromes
  3. SCN9A
STRs in panel
Prev Next
Regions in panel
Prev Next

Pain syndromes

Gene: SCN9A

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

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HSAN2D, autosomal recessive, AR, 243000
  • Erythermalgia, primary, AD, 133020
  • Small fiber neuropathy, AD,133020
  • Insensitivity to pain, congenital, AR, 243000
  • Paroxysmal extreme pain disorder, AD, 167400
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400 for gene: SCN9A

1 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN9A was added gene: SCN9A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 16392115; 17167479; 17470132; 17145499; 17679678; 25316021; 15958509; 28665811; 23596073; 24817410; 28235406; 16216943; 24813307; 14985375; 1536168 Phenotypes for gene: SCN9A were set to HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400