Genopathy
Gene-Disorder Association · Article
Gene
GDAP2
Ganglioside Induced Differentiation Associated Protein 2
Disorder
Spinocerebellar Ataxia, Autosomal Recessive 27
First reported 1981
Supporting publications 1
Key publication · disorder Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia.International journal of cancer · 1981
Manually curated
Association Review

In brief

The association between GDAP2 (Ganglioside Induced Differentiation Associated Protein 2) and Spinocerebellar Ataxia, Autosomal Recessive 27 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 7
Symptoms 31
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
GDAP2

The gene

1 source summary

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

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04
Spinocerebellar Ataxia, Autosomal Recessive 27

The disorder

8 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

22 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

7 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
Literature

Reading

1 publication

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

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09
Provenance

References & sources

6 references

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

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