Genopathy
Gene-Disorder Association · Article
Gene
MEIS2
Meis Homeobox 2
Disorder
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
First reported 2015
Supporting publications 6
Key publication · gene–disorder MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.American journal of medical genetics. Part A · 2015
Key publication · disorder Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome.Journal of medical genetics · 1973
Manually curated
Association Review

In brief

The association between MEIS2 (Meis Homeobox 2) and Cleft Palate, Cardiac Defects, And Impaired Intellectual Development is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 99
Symptoms 58
Compounds 0
Trials 0
Publications 6
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

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

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03
MEIS2

The gene

1 source summary

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

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04
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development

The disorder

6 database identifiers

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

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05
Phenotype

Clinical features

36 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

99 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

6 publications

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

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09
Provenance

References & sources

11 references

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

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