Genopathy
Gene-Disorder Association · Article
Gene
NR2C2AP
Nuclear Receptor 2C2 Associated Protein
Disorder
Mhc Class Ii Deficiency
First reported 1984
Key publication · disorder [The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression].Presse medicale (Paris, France : 1983) · 1984
Manually curated
Association Review

In brief

The association between NR2C2AP (Nuclear Receptor 2C2 Associated Protein) and Mhc Class Ii Deficiency is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 20
Symptoms 44
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
NR2C2AP

The gene

1 source summary

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

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04
Mhc Class Ii Deficiency

The disorder

12 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

38 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

20 clinical variants

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

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07
Provenance

References & sources

5 references

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

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