Genopathy
Gene-Disorder Association · Article
Gene
EXOC3L2
Exocyst Complex Component 3 Like 2
Disorder
Brain Malformation Renal Syndrome
First reported 2019
Supporting publications 4
Key publication · gene–disorder Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.Journal of medical genetics · 2019
Key publication · disorder Predicting basal metabolic rate, new standards and review of previous work.Human nutrition. Clinical nutrition · 1985
Manually curated
Association Review

In brief

The association between EXOC3L2 (Exocyst Complex Component 3 Like 2) and Brain Malformation Renal Syndrome is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 46
Compounds 0
Trials 0
Publications 4
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
EXOC3L2

The gene

1 source summary

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

Request access
04
Brain Malformation Renal Syndrome

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

24 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

2 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

4 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access