O'Donnell-Luria-Rodan syndrome: genes and variants
O'Donnell-Luria-Rodan syndrome is linked to 1 analyzed protein (KMT2E). 4 DNA variants are known to cause it; 46 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 O'Donnell-Luria-Rodan syndrome
KMT2E: Histone reader KMT2E
It regulates chromatin and transcription through mechanisms distinct from the catalytic KMT2 methyltransferases and is important for brain development and cell-cycle control. Haploinsufficiency causes O'Donnell-Luria-Rodan syndrome, with developmental delay, intellectual disability, and frequently macrocephaly.
4 disease-causing and 46 uncertain variants in KMT2E are linked to O'Donnell-Luria-Rodan syndrome.
Known disease-causing variants in O'Donnell-Luria-Rodan syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KMT2E R598G | 598 | Coiled coil | Disease-causing (★) |
| KMT2E R409W | 409 | SET | Disease-causing (★) |
| KMT2E L1159P | 1159 | Disease-causing (★) | |
| KMT2E K1356N | 1356 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to O'Donnell-Luria-Rodan syndrome?
In CATVariant, O'Donnell-Luria-Rodan syndrome is linked to 1 analyzed protein: KMT2E (Histone reader KMT2E).
How many genetic variants are linked to O'Donnell-Luria-Rodan syndrome?
73 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 46 are of uncertain significance or have conflicting reports.
Which uncertain variants in O'Donnell-Luria-Rodan syndrome 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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