Congenital myaesthenic syndrome

Gene: SYT15

Red List (low evidence)

SYT15 (synaptotagmin 15)
EnsemblGeneIds (GRCh38): ENSG00000204176
EnsemblGeneIds (GRCh37): ENSG00000204176
OMIM: 608081, Gene2Phenotype
SYT15 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Info from Tracy Lester : SYT15 – should be red on R80, not amber. No in-house cases as yet.
Created: 2 Dec 2019, 10:58 a.m. | Last Modified: 2 Dec 2019, 10:58 a.m.
Panel Version: 1.72
New gene added by reviewer. Rated as Red awaiting more information on this gene and potential disease association. gene-phenotype not listed in OMIM not publications to date supporting gene-disease association. To be highlighted to Test Group for further review due to potential research results
Created: 16 Oct 2019, 12:43 p.m. | Last Modified: 16 Oct 2019, 1:45 p.m.
Panel Version: 1.70
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

I don't know

David Beeson research results??
Created: 29 Apr 2019, 4:33 p.m.

Details

Sources
OMIM
608081
Clinvar variants
Variants in SYT15
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: syt15 has been classified as Red List (Low Evidence).

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: syt15 has been classified as Amber List (Moderate Evidence).

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYT15.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SYT15 was added gene: SYT15 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SYT15 was set to