Genopathy
Gene-Disorder Association · Article
Gene
NT5C2
5'-Nucleotidase, Cytosolic II
Disorder
Spastic Paraplegia 45, Autosomal Recessive
First reported 2009
Supporting publications 6
Key publication · gene–disorder Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.Neurogenetics · 2009
Key publication · disorder A study of posterior column function in familial spastic paraplegia.Journal of neurology, neurosurgery, and psychiatry · 1982
Manually curated
Association Review

In brief

The association between NT5C2 (5'-Nucleotidase, Cytosolic II) and Spastic Paraplegia 45, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 179
Symptoms 37
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.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
NT5C2

The gene

2 source summaries

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

Request access
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).

Request access
05
Phenotype

Clinical features

28 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

179 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access