Genopathy
Gene-Disorder Association · Article
Gene
CEP290
Centrosomal Protein 290
Disorder
Meckel Syndrome, Type 6
First reported 1983
Key publication · disorder Roentgenologic features of the Meckel syndrome.Pediatric radiology · 1983
Manually curated
Association Review

In brief

The association between CEP290 (Centrosomal Protein 290) and Meckel Syndrome, Type 6 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 3
Symptoms 27
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

2 sources

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

Request access
03
CEP290

The gene

1 source summary

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

Request access
04
Meckel Syndrome, Type 6

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

19 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 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

5 references

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

Request access