LAMA1
Chr 18ARlaminin subunit alpha 1
Also known as: LAMA, PTBHS, S-LAM-alpha
This gene encodes the alpha-1 subunit of laminin, an extracellular matrix glycoprotein that mediates cell attachment, migration, and tissue organization during development by binding to cellular receptors including alpha-dystroglycan. Biallelic mutations cause Poretti-Boltshauser syndrome, an autosomal recessive disorder characterized by cerebellar dysplasia and cystic malformation of the posterior fossa. The gene is highly constrained against loss-of-function variants (LOEUF 0.621), reflecting its critical role in nervous system development.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
400 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 | 10 | 0 | 7 | 0 | 17 |
Likely Pathogenic | 8 | 0 | 6 | 0 | 14 |
VUS | 1 | 219 | 11 | 0 | 231 |
Likely Benign | 0 | 13 | 39 | 50 | 102 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 19 | 232 | 63 | 50 | 364 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LAMA1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools