LBR
Chr 1ADARlamin B receptor
Also known as: C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
This protein catalyzes a key step in cholesterol biosynthesis by reducing lanosterol and also anchors the nuclear lamina and heterochromatin to the inner nuclear membrane. Mutations cause a spectrum of disorders including severe Greenberg skeletal dysplasia, Pelger-Huet anomaly (a benign neutrophil nuclear morphology variant), and rhizomelic skeletal dysplasia, with inheritance patterns that are both autosomal recessive and autosomal dominant depending on the specific condition. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.422), reflecting the range from benign to severe phenotypes associated with different mutation types.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
499 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 | 21 | 0 | 33 |
Likely Pathogenic | 4 | 4 | 0 | 0 | 8 |
VUS | 2 | 207 | 31 | 2 | 242 |
Likely Benign | 0 | 10 | 56 | 59 | 125 |
Benign | 0 | 1 | 31 | 4 | 36 |
Conflicting | — | 36 | |||
| Total | 15 | 225 | 139 | 65 | 480 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LBR · 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