1. Genes and Genomic Entities
  2. LAMA5

LAMA5

laminin subunit alpha 5
OMIM: 601033, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red LAMA5 in Congenital myaesthenic syndrome


Level 2: Neurology
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • myopia, facial tics, and failure of neuromuscular transmission
    Green LAMA5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Nephrotic syndrome, type 26, OMIM:620049
    Amber LAMA5 in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Nephrotic syndrome