Congenital myaesthenic syndromeGene: SYT15
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.
David Beeson research results??
Created: 29 Apr 2019, 4:33 p.m.
Gene: syt15 has been classified as Red List (Low Evidence).
Gene: syt15 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to SYT15.
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