Genopathy
Gene-Disorder Association · Article
Gene
CARMIL2
Capping Protein Regulator And Myosin 1 Linker 2
Disorder
Combined T Cell And B Cell Immunodeficiency
First reported 2001
Key publication · disorder Cutaneous granulomas masquerading as tuberculoid leprosy in a patient with congenital combined immunodeficiency.The Mount Sinai journal of medicine, New York · 2001
Association Review

In brief

The association between CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2) and Combined T Cell And B Cell Immunodeficiency is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 3
Symptoms 0
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
CARMIL2

The gene

1 source summary

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

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04
Combined T Cell And B Cell Immunodeficiency

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
ClinVar and variant evidence

Genetic basis

3 clinical variants

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

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06
Provenance

References & sources

2 references

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

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