Genopathy
Gene-Disorder Association · Article
Gene
GNE
Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase
Disorder
Thrombocytopenia 12 With Or Without Myopathy
First reported 2007
Key publication · disorder Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.The Journal of clinical investigation · 2007
Manually curated
Association Review

In brief

The association between GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase) and Thrombocytopenia 12 With Or Without Myopathy 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 causative variation.

Sources 4
Clinical variants 38
Symptoms 30
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

4 sources

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

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03
GNE

The gene

1 source summary

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

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04
Thrombocytopenia 12 With Or Without Myopathy

The disorder

7 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

11 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

38 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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