Congenital myaesthenic syndromeGene: SYT2
Comment on list classification: Promoted from red to green. PMID: 30533528 reported on a third unrelated case with a new variant in this gene. Therefore there is enough evidence to support a gene-disease association.
Created: 7 Aug 2019, 2:24 p.m. | Last Modified: 7 Aug 2019, 2:24 p.m.
Panel Version: 1.52
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.
Herrmann et al describe 2 multigenerational families with AD inheritiance with a combined LOD score of approx 2.4. Nerve conductions studies fit with a presynaptic CMS in both families (26519543 Whittaker 2015. also shown by Herrmann). Herrmann also constructed a drosophila model of one of the human mutations demonstrating dominant negative effect in synaptic transmission. 2 unrelated families, plus functional model - Green
Created: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Myasthenic syndrome, congenital, 7, presynaptic, 616040
Comment on list classification: Kept rating as Red: only reported in 2 families so far.
Created: 2 Feb 2017, 3:54 p.m.
PMID:25192047, Hermann et al 2014, establishes another presynaptic myasthenic syndrome: In 4 affected members of a 3-generation American family. they identified a heterozygous c.920A-C, D307A mutation in SYT2. In 6 affected members of a 3-generation family from the UK, they identified a heterozygous c.923C-T, P308L mutation in SYT2.
Created: 2 Feb 2017, 3:43 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 2 Feb 2017, 3:39 p.m.
Gene: syt2 has been classified as Green List (High Evidence).
Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review)
Publications for gene: SYT2 were set to 26519543
Publications for gene SYT2 were changed from 25192047; 27472506 (Review); 26519543 to 26519543
Source NHS GMS was added to SYT2.
Source Wessex and West Midlands GLH was added to SYT2.
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SYT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, 616040
SYT2 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen