Syndromic X-linked intellectual disability Najm type: genes and variants
Explore variant evidence for Syndromic X-linked intellectual disability Najm type across 1 analyzed protein (CASK). Linked ClinVar records include 8 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
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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 ClinVar pathogenic / likely pathogenic and 17 uncertain variants in CASK have source records linked to Syndromic X-linked intellectual disability Najm type. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Syndromic X-linked intellectual disability Najm type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CASK L209P | 209 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| CASK R255C | 255 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| CASK R489W | 489 | PDZ | Pathogenic / likely pathogenic (★★) |
| CASK G659D | 659 | SH3 | Pathogenic / likely pathogenic (★) |
| CASK V854A | 854 | Guanylate kinase-like | Pathogenic / likely pathogenic (★) |
| CASK H120R | 120 | Protein kinase | Pathogenic / likely pathogenic (★) |
| CASK V719M | 719 | Required for interaction with NRXN1 (via C-termi | Pathogenic / likely pathogenic (★) |
| CASK S810N | 810 | Guanylate kinase-like | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- FG syndrome also has ClinVar records linked to CASK variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Najm type variants (4 pathogenic / likely pathogenic).
- Intellectual disability, CASK-related, X-linked also has ClinVar records linked to CASK variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Najm type variants (3 pathogenic / likely pathogenic).
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 have records linked to Syndromic X-linked intellectual disability Najm type?
This view contains 1 analyzed proteins: CASK. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 8 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 54 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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