Genopathy
Gene-Disorder Association · Article
Gene
CEP290
Centrosomal Protein 290
Disorder
Leber Plus Disease
First reported 2018
Supporting publications 13
Key publication · gene–disorder Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.Scientific reports · 2018
Key publication · disorder [Familial retrobulbar optic neuritis (Leber's disease)].Annali di medicina navale · 1951
Manually curated
Association Review

In brief

The association between CEP290 (Centrosomal Protein 290) and Leber Plus Disease 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 419
Symptoms 29
Compounds 0
Trials 0
Publications 13
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
Leber Plus Disease

The disorder

17 database identifiers

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

Request access
05
Phenotype

Clinical features

25 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

419 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

1 shared pathway

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

Request access
08
Literature

Reading

13 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access