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  3. SYT2
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Hereditary Neuropathy_CMT - isolated

Gene: SYT2

Green List (high evidence)
SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Supportive functional data from Drosophila.
Created: 23 Oct 2020, 7:27 a.m. | Last Modified: 23 Oct 2020, 7:29 a.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; neuropathy

Publications

Created: 23 Oct 2020, 7:27 a.m.
Last Modified: 23 Oct 2020, 7:29 a.m.
Panel version: 0.59

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
  • HMSN
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syt2 has been classified as Green List (High Evidence).

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SYT2 was added gene: SYT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYT2 were set to 25192047; 30533528; 26519543 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN