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microphthalmia/coloboma 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia/coloboma 13

MONDO:0975809

Overview

GeneticsNHEJ1 (chr 2)

ResearchLimited published research (1 article)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NHEJ1 encodes non-homologous end joining factor 1 (299 aa). DNA repair protein involved in DNA non-homologous end joining (NHEJ); it is required for double-strand break (DSB) repair and V(D)J recombination and is also involved in telomere maintenance. Highest expression in Testis (23.6 TPM) and Cervix Ectocervix (18.7 TPM).

Microphthalmia/coloboma 13 is associated with mutations in the NHEJ1 gene on chromosome 2.

The NHEJ1 protein participates in p-T2609,S2612,T2638,T2647-PRKDC:XRCC5:XRCC6:p-S516,S645-DCLRE1C:XRCC4:LIG4:NHEJ1:POLL,POLM:Ligatable DNA DSB ends, p-T2609,S2612,T2638,T2647-PRKDC:XRCC5:XRCC6:p-S516,S645-DCLRE1C:XRCC4:LIG4:NHEJ1:POLL,POLM:Extended ligatable DNA DSB ends, and XRCC4:LIG4, NHEJ1 and POLL or POLM bind DNA DSBs in NHEJ pathways.

NHEJ1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NHEJ1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for microphthalmia/coloboma 13.

1 publication has been identified in PubMed for microphthalmia/coloboma 13. Research spans Basic Science / Preclinical (100%).

Recent Publications

Ceroni F (2024). [PMID: 39455595](https://pubmed.ncbi.nlm.nih.gov/39455595/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620968

Questions for Your Care Team

→Should I pursue genetic testing for NHEJ1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microphthalmia/coloboma 13

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team