PanelApp
  1. Genes and Genomic Entities
  2. SCN11A

SCN11A

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SCN11A in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
  • Episodic pain syndrome, familial, 3, MIM# 615552

Red SCN11A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548

Green SCN11A in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
    • MONDO:0014244

    Green SCN11A in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.25

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548

    Green SCN11A in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Episodic pain syndrome, familial, 3, MIM# 615552

    Green SCN11A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Episodic pain syndrome

    Green SCN11A in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.51

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
    • HSAN7

    Red SCN11A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548