Syndromic X-linked intellectual disability Najm type: genes and variants
Syndromic X-linked intellectual disability Najm type is linked to 1 analyzed protein (CASK). 8 DNA variants are known to cause it; 17 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 Syndromic X-linked intellectual disability Najm type
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.
8 disease-causing and 17 uncertain variants in CASK are linked to Syndromic X-linked intellectual disability Najm type.
Known disease-causing variants in Syndromic X-linked intellectual disability Najm type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CASK L209P | 209 | Protein kinase | Disease-causing (★★) |
| CASK R255C | 255 | Protein kinase | Disease-causing (★★) |
| CASK R489W | 489 | PDZ | Disease-causing (★★) |
| CASK G659D | 659 | SH3 | Disease-causing (★) |
| CASK V854A | 854 | Guanylate kinase-like | Disease-causing (★) |
| CASK H120R | 120 | Protein kinase | Disease-causing (★) |
| CASK V719M | 719 | Required for interaction with NRXN1 (via C-termi | Disease-causing (★) |
| CASK S810N | 810 | Guanylate kinase-like | Disease-causing (★) |
Same protein, different disease
- FG syndrome is also caused by CASK variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Najm type variants (4 disease-causing).
- Intellectual disability, CASK-related, X-linked is also caused by CASK variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Najm type variants (3 disease-causing).
Diseases related to Syndromic X-linked intellectual disability Najm type
- Developmental disorder, also linked to CASK
- FG syndrome, also linked to CASK
- Intellectual disability, CASK-related, X-linked, also linked to CASK
Frequently asked questions
Which genes are linked to Syndromic X-linked intellectual disability Najm type?
In CATVariant, Syndromic X-linked intellectual disability Najm type is linked to 1 analyzed protein: CASK (Peripheral plasma membrane protein CASK).
How many genetic variants are linked to Syndromic X-linked intellectual disability Najm type?
54 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 17 are of uncertain significance or have conflicting reports.
Which uncertain variants in Syndromic X-linked intellectual disability Najm type 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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