SYT2

synaptotagmin 2
OMIM: 600104, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SYT2 in Neuromuscular disorders


Version 5.177
Latest signed off version: v5.172 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, 616040

Red SYT2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.76
Latest signed off version: v3.2 (13 Feb 2020)

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040

Green SYT2 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.36
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040

    Red SYT2 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.64
    Latest signed off version: v1.63 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review Not set
    Sources
    • Expert Review Red
    • Expert

    Green SYT2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.394

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 7, presynaptic, 616040
    Tags
    • missense
    • watchlist

    Red SYT2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • South West GLH
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myasthenic syndrome, congenital, 7, presynaptic

    Green SYT2 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green