ODLURO

Chr 7AD

lysine methyltransferase 2E (inactive)

Also known as: HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B

NCBI Gene: 55904

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

O'Donnell-Luria-Rodan syndromeMIM #618512
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— ODLURO
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ODLURO?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ODLURO · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

O'Donnell-Luria-Rodan syndrome

MIM #618512

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — ODLURO
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.
Zhu S et al.·Epilepsy Behav
2025Case report
ODLURO syndrome: personal experience and review of the literature.
Conforti R et al.·Radiol Med
2021Review
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C et al.·J Med Genet
2022Cohort
Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders.
Ng R et al.·Am J Med Genet A
2025
A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.
Cai Q et al.·Int J Dev Neurosci
2025Case report
Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation.
Yuan J et al.·Zhong Nan Da Xue Xue Bao Yi Xue Ban
2024Case report
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Vecchio D et al.·Eur J Med Genet
2025Case report
Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes.
Ng R et al.·J Intellect Disabil Res
2025
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Benvenuto M et al.·Genes (Basel)
2024Case report
Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.
Ng R et al.·Clin Genet
2026
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools