Hereditary neuropathy

Gene: SYT2

I don't know

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 release

Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Myasthenic syndrome, congenital, 7, presynaptic

Publications

• 30533528
• 26519543

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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 phenotype

Created: 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.

Green List (high evidence)

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.

Green List (high evidence)

only 2 missense mutations are reported

Created: 9 Dec 2015, 4:49 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Myasthenic syndrome

Created: 9 Dec 2015, 8:50 a.m.

Myasthenic syndrome

Created: 8 Dec 2015, 3:06 p.m.