RSPH1
Chr 21ARradial spoke head component 1
Also known as: CT79, RSP44, RSPH10A, TSA2, TSGA2
This gene encodes a protein that functions as part of axonemal radial spoke complexes essential for sperm and ciliary motility. Mutations cause primary ciliary dyskinesia-24, inherited in an autosomal recessive pattern. The gene is expressed in tissues with motile cilia or flagella including the respiratory tract and testes.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
420 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 9 | 3 | 89 | 0 | 101 |
Likely Pathogenic | 4 | 1 | 7 | 0 | 12 |
VUS | 1 | 90 | 20 | 3 | 114 |
Likely Benign | 1 | 8 | 61 | 63 | 133 |
Benign | 0 | 1 | 29 | 6 | 36 |
Conflicting | — | 8 | |||
| Total | 15 | 103 | 206 | 72 | 404 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RSPH1 · 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