1. Genes and Genomic Entities
  2. SYT2

SYT2

synaptotagmin 2
OMIM: 600104, Gene2Phenotype

7 panels

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


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

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 2: Neurology
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

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
    Amber SYT2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461
    • Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
    Red SYT2 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.12
    Latest signed off version: v3.9 (30 Apr 2025)

    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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 1.506

    		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


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		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