BCL2L1
Chr 20BCL2 like 1
Also known as: BCL-XL/S, BCL2L, BCLX, Bcl-X, PPP1R52
This protein functions as a potent inhibitor of cell death by blocking mitochondrial voltage-dependent anion channels and preventing caspase activation. Mutations cause a severe early-onset neurological disorder characterized by intellectual disability, seizures, and microcephaly, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
43 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 | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 8 | 10 | 0 | 18 |
Likely Benign | 0 | 0 | 4 | 2 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 8 | 30 | 2 | 40 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BCL2L1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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