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  3. SYT2
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Arthrogryposis

Gene: SYT2

Red List (low evidence)
SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 7 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis. Only reported in two families
Created: 5 Jan 2017, 10:28 a.m.
Created: 5 Jan 2017, 10:28 a.m.

Panel version: 1.238

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SYT2 was created by ellenmcdonagh

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen