Genopathy
Gene-Disorder Association · Article
Gene
TCTN2
Tectonic Family Member 2
Disorder
Meckel Syndrome, Type 8
First reported 2011
Supporting publications 1
Key publication · gene–disorder A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.Human mutation · 2011
Key publication · disorder The Meckel syndrome in Finland: epidemiologic and genetic aspects.American journal of medical genetics · 1984
Manually curated
Association Review

In brief

The association between TCTN2 (Tectonic Family Member 2) and Meckel Syndrome, Type 8 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 203
Symptoms 32
Compounds 0
Trials 0
Publications 1
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

3 sources

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

Request access
03
TCTN2

The gene

1 source summary

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

Request access
04
Meckel Syndrome, Type 8

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

22 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

203 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
Literature

Reading

1 publication

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

Request access
09
Provenance

References & sources

6 references

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

Request access