Hereditary neuropathy NOT PMP22 copy number
Gene: SYT2
The case descriptions are somewhat confusing and perhaps the clinical picture is mixed but at least some of the cases have neuropathy.Created: 2 Apr 2020, 7:39 a.m. | Last Modified: 2 Apr 2020, 7:39 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myasthenic syndrome, congenital, 7, presynaptic; HMSN
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). 3 families and functional data according to Natalie's review but more of a myastheia phenotype but overlaps with CMT . Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS.Created: 6 Dec 2019, 2:53 p.m. | Last Modified: 6 Dec 2019, 2:57 p.m.
Panel Version: 0.38
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 1:24 p.m. | Last Modified: 6 Dec 2019, 1:24 p.m.
Panel Version: 0.20
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.
Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: syt2 has been classified as Red List (Low Evidence).
gene: SYT2 was added gene: SYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Amber,South West GLH Mode of inheritance for gene: SYT2 was set to Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic