SNAP25

synaptosome associated protein 25
OMIM: 600322, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red SNAP25 in Neuromuscular disorders


Version 5.47
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330

Red SNAP25 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red SNAP25 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Other
    • Literature
    Phenotypes
    • ?Myasthenic syndrome, congenital, 18, 616330

    Amber SNAP25 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability

    Amber SNAP25 in DDG2P


    Version 2.8
    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 Amber
    Phenotypes
    • Epilepsy and intellectual disability

    Green SNAP25 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • ?Myasthenic syndrome, congenital 18, 616330
    • ?Myasthenic syndrome, congenital, 18

    Green SNAP25 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    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 Green
    • Expert Review Green
    • Literature
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • ?Myasthenic syndrome, congenital 18, 616330
    • ?Myasthenic syndrome, congenital, 18, 616330

    Amber SNAP25 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Exercise intolerance, riboflavin-responsive, 616839