Congenital myaesthenic syndromeGene: SNAP25
Leave as Red, awaiting more information on this gene and potential disease association.
Created: 16 Oct 2019, 1:43 p.m. | Last Modified: 16 Oct 2019, 1:43 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.
see PanelApp - not enough evidence (can't access paper)
Created: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
?Myasthenic syndrome, congenital, 18, 616330
Only 1 reported case: In a girl with congenital myasthenic syndrome-18 (MIM:616330) with intellectual disability and ataxia, Shen et al. (2014, PMID:25381298) identified a de novo heterozygous c.200T-A transversion (I67N) in SNAP25. The mutation exerted a dominant-negative effect.
Created: 6 Feb 2017, 11:08 a.m.
Source NHS GMS was added to SNAP25.
Source Wessex and West Midlands GLH was added to SNAP25.
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
SNAP25 was added to Congenital myaestheniapanel. Source: Other Model of inheritance for gene SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SNAP25 was created by rfoulger
SNAP25 was added to Congenital myaestheniapanel. Sources: Literature