Genopathy
Gene-Disorder Association · Article
Gene
GRIN1
Glutamate Ionotropic Receptor NMDA Type Subunit 1
Disorder
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
First reported 2016
Supporting publications 2
Key publication · disorder Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Neurology · 2016
Manually curated
Association Review

In brief

The association between GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1) and Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive 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 19
Symptoms 35
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
GRIN1

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 Hyperkinetic Movements And Seizures, Autosomal Recessive

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

23 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

19 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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