Genopathy
Gene-Disorder Association · Article
Gene
SYT2
Synaptotagmin 2
Disorder
Myasthenic Syndrome, Congenital, 7a, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
First reported 1997
Supporting publications 5
Key publication · disorder Peptides derived from a wild-type murine proto-oncogene c-erbB-2/HER2/neu can induce CTL and tumor suppression in syngeneic hosts.Journal of immunology (Baltimore, Md. : 1950) · 1997
Manually curated
Association Review

In brief

The association between SYT2 (Synaptotagmin 2) and Myasthenic Syndrome, Congenital, 7a, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 16
Symptoms 39
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SYT2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Myasthenic Syndrome, Congenital, 7a, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

17 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

16 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

10 references

Every source and publication cited across this dossier, as one numbered reference list.

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