Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability: genes and variants
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability is linked to 1 analyzed protein (KIF11). 4 DNA variants are known to cause it; 26 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 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
KIF11: Kinesin-like protein KIF11
It powers separation of spindle poles during mitosis and also contributes to microtubule organization in developing tissues. Heterozygous loss-of-function variants can cause microcephaly with or without chorioretinopathy, lymphedema, and developmental impairment.
4 disease-causing and 26 uncertain variants in KIF11 are linked to Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability.
Known disease-causing variants in Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KIF11 H141L | 141 | Kinesin motor | Disease-causing (★) |
| KIF11 N527I | 527 | Disease-causing (★) | |
| KIF11 M545T | 545 | Disease-causing (★) | |
| KIF11 I299V | 299 | Kinesin motor | Disease-causing |
Frequently asked questions
Which genes are linked to Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability?
In CATVariant, Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability is linked to 1 analyzed protein: KIF11 (Kinesin-like protein KIF11).
How many genetic variants are linked to Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability?
58 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 26 are of uncertain significance or have conflicting reports.
Which uncertain variants in Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 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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