Genopathy
Gene-Disorder Association · Article
Gene
DCAF8
DDB1 And CUL4 Associated Factor 8
Disorder
Giant Axonal Neuropathy 2, Autosomal Dominant
First reported 2014
Supporting publications 2
Key publication · gene–disorder Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.Neurology · 2014
Key publication · disorder Giant axonal neuropathy: report of two siblings with endocrinological and histological studies.Neuropediatrics · 1981
Manually curated
Association Review

In brief

The association between DCAF8 (DDB1 And CUL4 Associated Factor 8) and Giant Axonal Neuropathy 2, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 5
Symptoms 23
Compounds 0
Trials 0
Publications 2
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
DCAF8

The gene

1 source summary

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

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04
Giant Axonal Neuropathy 2, Autosomal Dominant

The disorder

9 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

14 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

5 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

2 publications

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

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09
Provenance

References & sources

9 references

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

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