Genopathy
Gene-Disorder Association · Article
Gene
CEP290
Centrosomal Protein 290
Disorder
Meckel Syndrome, Type 1
First reported 2007
Supporting publications 119
Key publication · gene–disorder Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.American journal of human genetics · 2007
Key publication · disorder Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.Journal of medical genetics · 1966
Manually curated
Association Review

In brief

The association between CEP290 (Centrosomal Protein 290) and Meckel Syndrome, Type 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 3,180
Symptoms 133
Compounds 0
Trials 0
Publications 119
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
CEP290

The gene

1 source summary

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

Request access
04
Meckel Syndrome, Type 1

The disorder

18 database identifiers

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

Request access
05
Phenotype

Clinical features

109 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

3,180 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

2 shared pathways

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

Request access
08
Literature

Reading

119 publications

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

Request access
09
Provenance

References & sources

17 references

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

Request access