Genopathy
Gene-Disorder Association · Article
Gene
PURA
Purine Rich Element Binding Protein A
Disorder
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
First reported 2018
Supporting publications 21
Key publication · gene–disorder PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.Journal of medical genetics · 2018
Key publication · disorder 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.American journal of medical genetics. Part A · 2013
Manually curated
Association Review

In brief

The association between PURA (Purine Rich Element Binding Protein A) and Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 428
Symptoms 121
Compounds 0
Trials 0
Publications 21
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
PURA

The gene

1 source summary

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

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04
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation

The disorder

6 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

117 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

428 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

21 publications

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

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09
Provenance

References & sources

15 references

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

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