Hereditary neuropathy
Gene: SYT2
Possibly 2 families, clinical judgement required. PMID: 30533528 - missense variant in proband and mother (both affected). Characterization in Drosophila - dominant-negative effect on neurotransmitter release. PMID: 26519543 - 2 multigenerational families with dominant SYT2 mutations. Electrophysiologic testing revealed features indicative of a presynaptic deficit in neurotransmitter releaseCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Myasthenic syndrome, congenital, 7, presynaptic
Publications
Variants in this GENE are reported as part of current diagnostic practice
As a result of watchlist tag audit the watchlist tag was kept as still relevant to this gene, it was made green on this panel as it represents a broad phenotypeCreated: 13 Jan 2020, 3:16 p.m. | Last Modified: 13 Jan 2020, 3:16 p.m.
Panel Version: 1.368
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Added the tags 'watchlist' and 'missense' as there are 2 multigenerational families reported, and only missense variants reported.Created: 27 Jun 2018, 4:50 p.m.
Comment on publications: Two publications the same two variants identified in two mult-generational families - Pro308Leu and Asp307Ala.Created: 29 Mar 2018, 2:19 p.m.
only 2 missense mutations are reportedCreated: 9 Dec 2015, 4:49 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Myasthenic syndromeCreated: 9 Dec 2015, 8:50 a.m.
Myasthenic syndromeCreated: 8 Dec 2015, 3:06 p.m.
Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7, presynaptic, 616040
Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to SYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic for gene: SYT2 Publications for gene SYT2 were changed from 25192047; 26519543 to 26519543; 30533528
Source South West GLH was added to SYT2.
Source NHS GMS was added to SYT2.
Source London North GLH was added to SYT2.
Gene: syt2 has been classified as Amber List (Moderate Evidence).
Publications for gene: SYT2 were set to 25192047; 26519543
Publications for gene: SYT2 were set to 25192047; 26519543; 25192047
Publications for SYT2 were set to 25192047; 26519543
Phenotypes for SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic
SYT2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list