HYLS1
Chr 11ARHYLS1 centriolar and ciliogenesis associated
Also known as: HLS
This gene encodes a cytoplasmic protein involved in ciliogenesis, the process of forming cellular cilia that are essential for normal development and cellular signaling. Mutations cause hydrolethalus syndrome, a severe autosomal recessive developmental disorder characterized by lethal congenital malformations. The gene shows low constraint against loss-of-function variants (pLI near zero), which is consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
478 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 | 5 | 3 | 61 | 0 | 69 |
Likely Pathogenic | 28 | 2 | 2 | 0 | 32 |
VUS | 6 | 169 | 8 | 2 | 185 |
Likely Benign | 0 | 8 | 5 | 149 | 162 |
Benign | 0 | 8 | 5 | 3 | 16 |
Conflicting | — | 6 | |||
| Total | 39 | 190 | 81 | 154 | 470 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HYLS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools