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Hereditary neuropathy NOT PMP22 copy number

Gene: SYT2

Red List (low evidence)

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

8 reviews

Zornitza Stark (Australian Genomics)

I don't know

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

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)

I don't know

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.

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 Review Red
  • South West GLH
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 1

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

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: syt2 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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