Genopathy
Gene-Disorder Association · Article
Gene
SYNE2
Spectrin Repeat Containing Nuclear Envelope Protein 2
Disorder
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
First reported 1995
Key publication · disorder Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.Human molecular genetics · 1995
Manually curated
Association Review

In brief

The association between SYNE2 (Spectrin Repeat Containing Nuclear Envelope Protein 2) and Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 3,578
Symptoms 15
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
SYNE2

The gene

1 source summary

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

Request access
04
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

11 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

3,578 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Provenance

References & sources

6 references

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

Request access