PWRN1
Chr 15Prader-Willi region non-protein coding RNA 1
Also known as: LOHAN1, NCRNA00198
PWRN1 encodes a non-coding RNA transcript that is paternally expressed in brain tissue and is located within the Prader-Willi syndrome critical region on chromosome 15q11-q13. Mutations or deletions affecting this gene contribute to Prader-Willi syndrome, a genomic imprinting disorder characterized by neonatal hypotonia, feeding difficulties in infancy followed by hyperphagia and obesity, intellectual disability, and behavioral problems. The condition follows a paternal inheritance pattern due to genomic imprinting, where only the paternally inherited copy is normally expressed in brain tissue.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
199 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 | — | — | — | — | 185 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 10 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 199 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PWRN1 · 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