Neurodevelopmental disorder with language impairment and behavioral abnormalities: genes and variants

Genes linked to Neurodevelopmental disorder with language impairment and behavioral abnormalities

• GRIA2: Glutamate receptor 2

  An AMPA-type glutamate receptor subunit that contributes to fast excitatory signaling in the nervous system. Together with other subunits it forms a glutamate-gated cation channel, and its presence helps shape the channel's ion permeability and synaptic behavior.

  24 disease-causing and 18 uncertain variants in GRIA2 are linked to Neurodevelopmental disorder with language impairment and behavioral abnormalities.

Where Neurodevelopmental disorder with language impairment and behavioral abnormalities variants cluster

• GRIA2 Extracellular (positions 638–812): 15 of 24 disease-causing changes, 3.1× more than its size predicts.

Known disease-causing variants in Neurodevelopmental disorder with language impairment and behavioral abnormalities

Which prediction tools work for Neurodevelopmental disorder with language impairment and behavioral abnormalities

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

• SIFT: 94 out of 100
• PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CATVariant: 86 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Diseases related to Neurodevelopmental disorder with language impairment and behavioral abnormalities

• Epilepsy, also linked to GRIA2
• Lennox-Gastaut syndrome, also linked to GRIA2

Frequently asked questions

Which genes are linked to Neurodevelopmental disorder with language impairment and behavioral abnormalities?

In CATVariant, Neurodevelopmental disorder with language impairment and behavioral abnormalities is linked to 1 analyzed protein: GRIA2 (Glutamate receptor 2).

How many genetic variants are linked to Neurodevelopmental disorder with language impairment and behavioral abnormalities?

47 variants: 24 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 18 are of uncertain significance or have conflicting reports.

Which uncertain variants in Neurodevelopmental disorder with language impairment and behavioral abnormalities look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Neurodevelopmental disorder with language impairment and behavioral abnormalities?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 18 disease-causing and 8 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.

Download every variant as CSV · Browse all diseases · Methods · About the Center