NBEAL2
Chr 3ARneurobeachin like 2
Also known as: BDPLT4, GPS
The protein contains a BEACH domain and multiple WD40 domains and is involved in thrombopoiesis, specifically playing a role in the development or secretion of platelet alpha-granules that contain growth factors important for platelet biogenesis. Mutations cause gray platelet syndrome, which follows autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.32), indicating that such variants are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
500 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 | 2 | 0 | 3 | 0 | 5 |
Likely Pathogenic | 16 | 1 | 0 | 0 | 17 |
VUS | 2 | 326 | 4 | 0 | 332 |
Likely Benign | 0 | 8 | 16 | 51 | 75 |
Benign | 1 | 2 | 6 | 2 | 11 |
Conflicting | — | 3 | |||
| Total | 21 | 337 | 29 | 53 | 443 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NBEAL2 · 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