LAMA2

laminin subunit alpha 2
OMIM: 156225, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green LAMA2 in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855

    Green LAMA2 in Lissencephaly and Band Heterotopia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • LAMA2-related muscular dystrophy
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855

    Green LAMA2 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

    Green LAMA2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

    Green LAMA2 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

    Green LAMA2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138

    Green LAMA2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138
    • LAMA2-related muscular dystrophy (suggested by PMID: 30055037)

    Green LAMA2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

    Green LAMA2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, congenital merosin-deficient, 607855 (3)

    Green LAMA2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, congenital merosin-deficient

    Green LAMA2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855

    Green LAMA2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, congenital merosin-deficient, 607855 (3)

    Green LAMA2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
    Tags
    • pharmacogenomic

    Green LAMA2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, congenital merosin-deficient, 607855 (3)