Genopathy
Gene-Disorder Association · Article
Gene
PANK2
Pantothenate Kinase 2
Disorder
Neurodegeneration With Brain Iron Accumulation 1
First reported 1992
Supporting publications 97
Key publication · gene–disorder Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).Neurology · 1992
Key publication · disorder [Hallervorden-Spatz disease; two cases of progressive familial rigidity with anatomic examination].L'Encephale · 1950
Manually curated
Association Review

In brief

The association between PANK2 (Pantothenate Kinase 2) and Neurodegeneration With Brain Iron Accumulation 1 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 631
Symptoms 147
Compounds 0
Trials 0
Publications 97
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

5 sources

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

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03
PANK2

The gene

1 source summary

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

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04
Neurodegeneration With Brain Iron Accumulation 1

The disorder

17 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

114 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

631 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

97 publications

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

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09
Provenance

References & sources

17 references

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

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