Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant: genes and variants

Genes linked to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

• GRIN1: Glutamate receptor ionotropic, NMDA 1

  It provides an obligatory subunit of NMDA receptors and is essential for glutamate-dependent synaptic transmission, calcium signaling, and plasticity. Pathogenic variants can cause GRIN1-related neurodevelopmental disorder with intellectual disability, movement abnormalities, epilepsy, and cortical visual impairment.

  55 disease-causing and 221 uncertain variants in GRIN1 are linked to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.

Where Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant variants cluster

• GRIN1 Transmembrane (positions 628–648): 13 of 55 disease-causing changes, 10.6× more than its size predicts.
• GRIN1 Transmembrane (positions 812–835): 7 of 55 disease-causing changes, 5.0× more than its size predicts.
• GRIN1 Cytoplasmic (positions 616–627): 5 of 55 disease-causing changes, 7.1× more than its size predicts.
• GRIN1 Extracellular (positions 649–811): 15 of 55 disease-causing changes, 1.6× more than its size predicts.

Known disease-causing variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Uncertain variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant that look disease-causing

Which prediction tools work for Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• PolyPhen-2: 81 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 81 out of 100
• REVEL: 75 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 67 out of 100
• CATVariant: 61 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• MetaLR: 51 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 46 out of 100

Diseases related to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

• Self-limited epilepsy with centrotemporal spikes, also linked to GRIN1

Frequently asked questions

Which genes are linked to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?

In CATVariant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant is linked to 1 analyzed protein: GRIN1 (Glutamate receptor ionotropic, NMDA 1).

How many genetic variants are linked to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?

313 variants: 55 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 221 are of uncertain significance or have conflicting reports.

Which uncertain variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant look disease-causing?

7 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GRIN1 G815W, GRIN1 S617C, GRIN1 A806V, GRIN1 G815E and GRIN1 F654S. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.81, based on 15 disease-causing and 28 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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