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Research panel - Severe Paediatric Disorders

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 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SCN9A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3) | Erythermalgia, primary, 133020 (3) | Febrile seizures, familial, 3B, 613863 (3) | HSAN2D, autosomal recessive, 243000 (3) | Insensitivity to pain, congenital, 243000 (3) | Paroxysmal extreme pain disorder, 167400 (3) | Small fiber neuropathy, 133020 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Insensitivity to pain, congenital, 243000
  • Febrile seizures, familial, 3B, 613863
  • Paroxysmal extreme pain disorder, 167400
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Small fiber neuropathy, 133020
  • HSAN2D, autosomal recessive, 243000
  • Erythermalgia, primary, 133020
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SCN9A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Small fiber neuropathy, 133020; Paroxysmal extreme pain disorder, 167400; Erythermalgia, primary, 133020; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, congenital, 243000; HSAN2D, autosomal recessive, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863 for gene: SCN9A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCN9A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SCN9A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SCN9A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCN9A was added gene: SCN9A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN9A was set to