Intellectual disability, CASK-related, X-linked: genes and variants
Intellectual disability, CASK-related, X-linked is linked to 1 analyzed protein (CASK). 3 DNA variants are known to cause it; 142 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Intellectual disability, CASK-related, X-linked
CASK: Peripheral plasma membrane protein CASK
It organizes synaptic and cell-junction protein complexes and also participates in transcriptional regulation during brain development. Loss-of-function variants can cause microcephaly with pontine and cerebellar hypoplasia, intellectual disability, epilepsy, and other X-linked neurodevelopmental phenotypes.
3 disease-causing and 142 uncertain variants in CASK are linked to Intellectual disability, CASK-related, X-linked.
Known disease-causing variants in Intellectual disability, CASK-related, X-linked
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CASK R489Q | 489 | PDZ | Disease-causing (★★) |
| CASK E102G | 102 | Protein kinase | Disease-causing (★★) |
| CASK H531P | 531 | PDZ | Disease-causing (★) |
Same protein, different disease
- Syndromic X-linked intellectual disability Najm type is also caused by CASK variants; they fall mostly in different places as the Intellectual disability, CASK-related, X-linked variants (8 disease-causing).
Diseases related to Intellectual disability, CASK-related, X-linked
- Syndromic X-linked intellectual disability Najm type, also linked to CASK
- Developmental disorder, also linked to CASK
- FG syndrome, also linked to CASK
Frequently asked questions
Which genes are linked to Intellectual disability, CASK-related, X-linked?
In CATVariant, Intellectual disability, CASK-related, X-linked is linked to 1 analyzed protein: CASK (Peripheral plasma membrane protein CASK).
How many genetic variants are linked to Intellectual disability, CASK-related, X-linked?
166 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 142 are of uncertain significance or have conflicting reports.
Which uncertain variants in Intellectual disability, CASK-related, X-linked 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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