Genes in panel

Hereditary neuropathy

Gene: SYT2

Green List (high evidence)

SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 6 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

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

Alexander Rossor (UCL Institute of Neurology)

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

Mary Reilly (Institute of Neurology)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, 616040
Tags
missense watchlist
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7, presynaptic, 616040

7 Dec 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Apr 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic for gene: SYT2 Publications for gene SYT2 were changed from 25192047; 26519543 to 26519543; 30533528

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SYT2.

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYT2.

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SYT2.

27 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: syt2 has been classified as Amber List (Moderate Evidence).

27 Jun 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: SYT2 were set to 25192047; 26519543

27 Jun 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: SYT2 were set to 25192047; 26519543; 25192047

29 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SYT2 were set to 25192047; 26519543

5 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list