NANS
Chr 9ARN-acetylneuraminate synthase
Also known as: HEL-S-100, SAS, SEMDCG, SEMDG
The NANS protein is a sialic acid synthase that catalyzes the synthesis of phosphorylated forms of sialic acids, including N-acetylneuraminic acid and deaminoneuraminic acid, which are required for brain and skeletal development. Mutations cause spondyloepimetaphyseal dysplasia, Genevieve type, a skeletal dysplasia with autosomal recessive inheritance. This condition affects both the skeletal system and brain development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
247 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 | 1 | 31 | 0 | 37 |
Likely Pathogenic | 4 | 5 | 5 | 0 | 14 |
VUS | 1 | 87 | 9 | 0 | 97 |
Likely Benign | 0 | 3 | 23 | 44 | 70 |
Benign | 0 | 2 | 11 | 5 | 18 |
Conflicting | — | 3 | |||
| Total | 10 | 98 | 79 | 49 | 239 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NANS · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools