Intellectual developmental disorder 62: genes and variants
Intellectual developmental disorder 62 is linked to 3 analyzed proteins (DLG4, GRIA1 and SETD2). 12 DNA variants are known to cause it; 42 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: intellectual developmental disorder, autosomal dominant 65; intellectual developmental disorder, autosomal dominant 67; intellectual developmental disorder, autosomal dominant 70; intellectual developmental disorder, autosomal recessive 76; Intellectual developmental disorder, X-linked 111
Genes linked to Intellectual developmental disorder 62
DLG4: Disks large homolog 4
It organizes glutamate receptors, signaling enzymes, and cytoskeletal proteins at excitatory postsynaptic densities, making it central to synaptic transmission and plasticity. Haploinsufficiency can cause a neurodevelopmental disorder with intellectual disability, autism-related features, and sometimes epilepsy.
6 disease-causing and 19 uncertain variants in DLG4 are linked to Intellectual developmental disorder 62.
GRIA1: Glutamate receptor 1
An AMPA-type glutamate receptor subunit that forms a ligand-gated cation channel at excitatory synapses. Glutamate opens the receptor to convert a chemical signal into an electrical response, supporting fast transmission and activity-dependent plasticity in the brain.
5 disease-causing and 9 uncertain variants in GRIA1 are linked to Intellectual developmental disorder 62.
SETD2: Histone-lysine N-methyltransferase SETD2
It deposits H3K36 trimethylation across actively transcribed genes and helps coordinate RNA processing, DNA repair, and genome stability. Somatic loss is common in renal and other cancers, while germline pathogenic variants can cause Luscan-Lumish overgrowth syndrome.
1 disease-causing and 12 uncertain variants in SETD2 are linked to Intellectual developmental disorder 62.
Weakly linked (only a few uncertain records): OCRL and SPTA1.
Where Intellectual developmental disorder 62 variants cluster
- DLG4 Guanylate kinase-like (positions 534–709): 4 of 6 disease-causing changes, 2.7× more than its size predicts.
Known disease-causing variants in Intellectual developmental disorder 62
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DLG4 D186V | 186 | PDZ 2 | Disease-causing (★★) |
| DLG4 R586Q | 586 | Guanylate kinase-like | Disease-causing (★★) |
| DLG4 T611I | 611 | Guanylate kinase-like | Disease-causing (★★) |
| DLG4 G177V | 177 | PDZ 2 | Disease-causing (★★) |
| GRIA1 A636T | 636 | Extracellular | Disease-causing (★★) |
| DLG4 P564S | 564 | Guanylate kinase-like | Disease-causing (★) |
| GRIA1 P508Q | 508 | Extracellular | Disease-causing (★) |
| GRIA1 G513E | 513 | Extracellular | Disease-causing (★) |
| GRIA1 S872T | 872 | Cytoplasmic | Disease-causing (★) |
| SETD2 V1743L | 1743 | Disease-causing (★) | |
| DLG4 P536L | 536 | Guanylate kinase-like | Disease-causing |
| GRIA1 G745D | 745 | Extracellular | Disease-causing |
Which prediction tools work for Intellectual developmental disorder 62
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Luscan-Lumish syndrome is also caused by SETD2 variants; they fall mostly in different places as the Intellectual developmental disorder 62 variants (5 disease-causing).
Diseases related to Intellectual developmental disorder 62
- Epilepsy, also linked to GRIA1
- Luscan-Lumish syndrome, also linked to SETD2
- Lennox-Gastaut syndrome, also linked to GRIA1
Frequently asked questions
Which genes are linked to Intellectual developmental disorder 62?
In CATVariant, Intellectual developmental disorder 62 is linked to 3 analyzed proteins: DLG4 (Disks large homolog 4), GRIA1 (Glutamate receptor 1) and SETD2 (Histone-lysine N-methyltransferase SETD2).
How many genetic variants are linked to Intellectual developmental disorder 62?
87 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 42 are of uncertain significance or have conflicting reports.
Which uncertain variants in Intellectual developmental disorder 62 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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