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 1.17

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 1.79

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 0.22

review Not set
Sources
  • Expert Review Amber
  • SFARI

Green SCN9A in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12

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 1.44
Latest signed off version: v1.2 (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 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythermalgia, primary, OMIM:133020

Red SCN9A in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

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 1.454

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

Red SCN9A in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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 3.1677
Latest signed off version: v3.2 (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
    • 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 2.158
    Latest signed off version: v2.13 (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 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    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 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.127

    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