1. Genes and Genomic Entities
  2. SYT2

SYT2

synaptotagmin 2
OMIM: 600104, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SYT2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

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 4.6
Latest signed off version: v4.5 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 3.7
    Latest signed off version: v3.6 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    Green SYT2 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SYT2-related congenital onset presynaptic myasthenic syndrome
    Green SYT2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    		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
    Green SYT2 in Hereditary neuropathy or pain disorder


    Version 4.8
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040