SCN9A

sodium voltage-gated channel alpha subunit 9
OMIM: 603415, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SCN9A in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • HSAN2D, autosomal recessive, 243000
  • Insensitivity to pain, congenital, 243000

Red SCN9A in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.59

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Erythermalgia, primary, 133020
  • Insensitivity to pain, channelopathy-associated, 243000
  • Paroxysmal extreme pain disorder, 167400
  • Febrile seizures, familial, 3B, 613863
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Congenital Indifference to Pain
  • Dysosteosclerosis
  • Erythermalgia, Primary
  • Paroxysmal Extreme Pain Disorder
  • Hereditary Sensory Neuropathy

Amber SCN9A in Autism


Version 0.20

review Not set
Sources
  • Expert Review Amber
  • SFARI

Green SCN9A in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Erythermalgia, primary, AD, 133020
  • Small fiber neuropathy, AD,133020
  • HSAN2D, autosomal recessive, AR, 243000
  • Insensitivity to pain, congenital, AR, 243000
  • Paroxysmal extreme pain disorder, AD, 167400

Red SCN9A in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Paroxysmal extreme pain disorder, 167400
  • Paroxysmal Extreme Pain Disorder
  • Congenital Indifference to Pain
  • Erythermalgia, primary, AD, 133020
  • Paroxysmal extreme pain disorder, AD, 167400
  • Small fiber neuropathy, AD,133020
  • Febrile seizures, familial, 3B, 613863
  • Dysosteosclerosis
  • Insensitivity to pain, congenital, AR, 243000
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Erythermalgia, Primary
  • HSAN2D, autosomal recessive, AR, 243000
  • Insensitivity to pain, channelopathy-associated, 243000
  • Erythermalgia, primary, 133020
  • Hereditary Sensory Neuropathy

Green SCN9A in Vascular skin disorders


Version 1.4
Signed off v.1.3 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythromyalgia

Red SCN9A in Neurodegenerative disorders - adult onset


Version 2.38
Signed off v.2.31 on 8 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Erythermalgia, primary, 133020
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Congenital Indifference to Pain
  • Paroxysmal Extreme Pain Disorder
  • Dysosteosclerosis
  • Insensitivity to pain, channelopathy-associated, 243000
  • Hereditary Sensory Neuropathy
  • Paroxysmal extreme pain disorder, 167400
  • Febrile seizures, familial, 3B, 613863
  • Erythermalgia, Primary

Green SCN9A in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Hereditary Neuropathies

Amber SCN9A in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.270
Signed off v.2.2 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • North West GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7 613863
  • Febrile seizures, familial, 3B 613863
  • {Dravet syndrome, modifier of} 607208

Red SCN9A in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.737
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Amber
    • 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

    Red SCN9A in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Brain channelopathy v1.46
    Phenotypes
    • Paroxysmal extreme pain disorder, 167400
    • Congenital Indifference to Pain
    • Paroxysmal Extreme Pain Disorder
    • Hereditary Sensory Neuropathy
    • Febrile seizures, familial, 3B, 613863
    • Dysosteosclerosis
    • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
    • Insensitivity to pain, channelopathy-associated, 243000
    • Erythermalgia, primary, 133020
    • Erythermalgia, Primary

    Red SCN9A in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Paroxysmal extreme pain disorder, 167400
    • Erythermalgia, primary, 133020
    • Erythermalgia, Primary
    • Paroxysmal Extreme Pain Disorder
    • Congenital Indifference to Pain
    • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
    • Insensitivity to pain, channelopathy-associated, 243000
    • Dysosteosclerosis
    • Hereditary Sensory Neuropathy
    • Febrile seizures, familial, 3B, 613863

    Green SCN9A in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies

    Red SCN9A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.73
    Signed off v.1.58 on 6 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    Phenotypes
    • Paroxysmal extreme pain disorder, 167400
    • Erythermalgia, Primary
    • Erythermalgia, primary, 133020
    • Hereditary Sensory Neuropathy
    • Insensitivity to pain, channelopathy-associated, 243000
    • Congenital Indifference to Pain
    • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
    • Dysosteosclerosis
    • Febrile seizures, familial, 3B, 613863
    • Paroxysmal Extreme Pain Disorder

    Green SCN9A in Severe Paediatric Disorders


    Version 1.43

    review 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