Genopathy
Gene-Disorder Association · Article
Gene
MAPRE2
Microtubule Associated Protein RP/EB Family Member 2
Disorder
Skin Creases, Congenital Symmetric Circumferential, 2
First reported 2011
Supporting publications 4
Key publication · gene–disorder Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".European journal of medical genetics · 2011
Key publication · disorder Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?Journal of child neurology · 2009
Manually curated
Association Review

In brief

The association between MAPRE2 (Microtubule Associated Protein RP/EB Family Member 2) and Skin Creases, Congenital Symmetric Circumferential, 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 12
Symptoms 91
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

4 sources

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

Request access
03
MAPRE2

The gene

1 source summary

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

Request access
04
Skin Creases, Congenital Symmetric Circumferential, 2

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

52 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

12 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

10 references

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

Request access