PanelApp (staging)
  1. Genes and Genomic Entities
  2. SNAP25

SNAP25

synaptosome associated protein 25
OMIM: 600322, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SNAP25 in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
  • Myasthenic syndrome, congenital, 18, MIM# 616330

Green SNAP25 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, SNAP25-related

    Green SNAP25 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Myasthenic syndrome, congenital, 18
    • OMIM #616330

    Green SNAP25 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Myasthenic syndrome, congenital, 18, 616330
    • cerebellar ataxia and seizures

    Red SNAP25 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Amber SNAP25 in Fetal anomalies


    Version 1.313

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 18, MIM# 616330
    • Developmental and epileptic encephalopathy

    Red SNAP25 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
    Tags
    • for review