SCN11A

sodium voltage-gated channel alpha subunit 11
OMIM: 604385, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SCN11A in Familial dysautonomia


Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548

Green SCN11A in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548

Green SCN11A in Pain syndromes

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Familial episodic pain syndrome
  • Hereditary sensory and autonomic neuropathy type VII
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • Episodic pain syndrome, familial, 3, 615552

Red SCN11A in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Familial episodic pain syndrome
  • Episodic pain syndrome, familial, 3, 615552
  • Hereditary sensory and autonomic neuropathy type VII
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548

Red SCN11A in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL INABILITY TO EXPERIENCE PAIN

Green SCN11A in DDG2P


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL INABILITY TO EXPERIENCE PAIN
    • EPISODIC PAIN SYNDROME, FAMILIAL 615552
    Tags
    • watchlist

    Green SCN11A in Hereditary neuropathy

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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Episodic pain syndrome, familial, 3, 615552
    • Neuropathy, hereditary sensory and autonomic, type VII, 615548
    • CONGENITAL INABILITY TO EXPERIENCE PAIN

    Red SCN11A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VII, 615548
    • Episodic pain syndrome, familial, 3, 615552

    Green SCN11A in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • CONGENITAL INABILITY TO EXPERIENCE PAIN
    • Neuropathy, hereditary sensory and autonomic, type VII, 615548
    • Episodic pain syndrome, familial, 3, 615552

    Green SCN11A in Severe Paediatric Disorders


    Version 1.43

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VII, 615548
    • Episodic pain syndrome, familial, 3, 615552