The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).
Order this gene as a single gene test.
Invitae tests that include this gene:
The LAMB2 gene encodes the beta-2 subunit of laminin, a heterotrimeric extracellular matrix protein. Laminin is involved in cell differentiation, adhesion, migration and proliferation.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|