LAMA2

laminin subunit alpha 2
OMIM: 156225, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green LAMA2 in Malformations of cortical development


Level 2: Neurology
Version 7.50
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855
    Green LAMA2 in Congenital muscular dystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
    Green LAMA2 in Arthrogryposis


    Level 2: Neurology
    Version 9.32
    Latest signed off version: v9.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Congenital Muscular Dystrophy, LAMA2-related
    • Muscular dystrophy, congenital merosin-deficient, 607855
    Green LAMA2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.41
    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
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
    • congenital muscular dystroph
    Green LAMA2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.186
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL MUSCULAR DYSTROPHY
    Green LAMA2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL MUSCULAR DYSTROPHY 607855
    Red LAMA2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.64
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green LAMA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.373
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855
    • CONGENITAL MUSCULAR DYSTROPHY