LAMA5

laminin subunit alpha 5
OMIM: 601033, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LAMA5 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bent bone dysplasia syndrome 2, MIM# 620076
  • nephrotic syndrome
  • Presynaptic congenital myasthenic syndrome
  • multisystem syndrome
  • developmental delay

Green LAMA5 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephrotic syndrome, type 26 620049

    Red LAMA5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bent bone dysplasia syndrome 2, MIM# 620076

    Red LAMA5 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Presynaptic congenital myasthenic syndrome

    Red LAMA5 in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • bent bone dysplasia
    • nephrotic syndrome
    • Presynaptic congenital myasthenic syndrome
    • multisystem syndrome
    • developmental delay