RHNO1
Chr 12RAD9-HUS1-RAD1 interacting nuclear orphan 1
Also known as: C12orf32, HKMT1188, RHINO
The RHNO1 protein facilitates DNA repair through microhomology-mediated end-joining during mitosis and participates in DNA damage response signaling during S-phase by recruiting repair machinery to double-strand breaks. Mutations cause autosomal recessive intellectual disability with developmental delay, seizures, and distinctive facial features, typically presenting in early childhood. The gene shows low constraint to loss-of-function variation (pLI 0.003, LOEUF 1.25), which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
81 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 60 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 72 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RHNO1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools