Genopathy
Gene-Disorder Association · Article
Gene
GRIA4
Glutamate Ionotropic Receptor AMPA Type Subunit 4
Disorder
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
First reported 2017
Supporting publications 1
Key publication · disorder De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.American journal of human genetics · 2017
Manually curated
Association Review

In brief

The association between GRIA4 (Glutamate Ionotropic Receptor AMPA Type Subunit 4) and Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities 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 39
Symptoms 60
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
GRIA4

The gene

2 source summaries

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

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04
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities

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

30 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

39 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

8 references

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

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