Genopathy
Gene-Disorder Association · Article
Gene
MED27
Mediator Complex Subunit 27
Disorder
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Atrophy
First reported 2021
Supporting publications 1
Key publication · gene–disorder MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.Annals of neurology · 2021
Manually curated
Association Review

In brief

The association between MED27 (Mediator Complex Subunit 27) and Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Atrophy 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 8
Symptoms 74
Compounds 0
Trials 0
Publications 1
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

2 sources

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

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03
MED27

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Atrophy

The disorder

5 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

32 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

8 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

1 publication

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

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09
Provenance

References & sources

5 references

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

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