Genopathy
Gene-Disorder Association · Article
Gene
CNNM2
Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2
Disorder
Spastic Paraplegia 45, Autosomal Recessive
First reported 1982
Key publication · disorder A study of posterior column function in familial spastic paraplegia.Journal of neurology, neurosurgery, and psychiatry · 1982
Association Review

In brief

The association between CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2) and Spastic Paraplegia 45, Autosomal Recessive is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 30
Symptoms 37
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
CNNM2

The gene

1 source summary

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

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04
Spastic Paraplegia 45, Autosomal Recessive

The disorder

11 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

28 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

30 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
Provenance

References & sources

6 references

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

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