Genopathy
Gene-Disorder Association · Article
Gene
PIGU
Phosphatidylinositol Glycan Anchor Biosynthesis Class U
Disorder
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
First reported 2019
Supporting publications 1
Key publication · gene–disorder Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.American journal of human genetics · 2019
Key publication · disorder New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.American journal of medical genetics · 1992
Manually curated
Association Review

In brief

The association between PIGU (Phosphatidylinositol Glycan Anchor Biosynthesis Class U) and Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 11
Symptoms 76
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

4 sources

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

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03
PIGU

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis

The disorder

5 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

49 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

11 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

7 references

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

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