Syndromic X-linked intellectual disability Lubs type: genes and variants
Syndromic X-linked intellectual disability Lubs type is linked to 1 analyzed protein (MECP2). 2 DNA variants are known to cause it; 6 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 Lubs type
MECP2: Methyl-CpG-binding protein 2
It interprets DNA methylation and organizes transcriptional and chromatin states that are especially important in mature neurons. Loss-of-function variants cause Rett syndrome, whereas increased dosage causes MECP2 duplication syndrome.
2 disease-causing and 6 uncertain variants in MECP2 are linked to Syndromic X-linked intellectual disability Lubs type.
Known disease-causing variants in Syndromic X-linked intellectual disability Lubs type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MECP2 S134C | 134 | MBD | Disease-causing (★★) |
| MECP2 L138F | 138 | MBD | Disease-causing (★) |
Same protein, different disease
- Rett syndrome is also caused by MECP2 variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Lubs type variants (88 disease-causing).
- Severe neonatal-onset encephalopathy with microcephaly is also caused by MECP2 variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Lubs type variants (29 disease-causing).
- X-linked intellectual disability-psychosis-macroorchidism syndrome is also caused by MECP2 variants; they fall mostly in different places as the Syndromic X-linked intellectual disability Lubs type variants (4 disease-causing).
Diseases related to Syndromic X-linked intellectual disability Lubs type
- Rett syndrome, also linked to MECP2
- Severe neonatal-onset encephalopathy with microcephaly, also linked to MECP2
- Angelman syndrome, also linked to MECP2
- Autism, also linked to MECP2
- Focal epilepsy, also linked to MECP2
- X-linked intellectual disability-psychosis-macroorchidism syndrome, also linked to MECP2
Frequently asked questions
Which genes are linked to Syndromic X-linked intellectual disability Lubs type?
In CATVariant, Syndromic X-linked intellectual disability Lubs type is linked to 1 analyzed protein: MECP2 (Methyl-CpG-binding protein 2).
How many genetic variants are linked to Syndromic X-linked intellectual disability Lubs type?
18 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Syndromic X-linked intellectual disability Lubs 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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