LAMB2

laminin subunit beta 2
OMIM: 150325, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green LAMB2 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pierson syndrome 609049

Red LAMB2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pierson syndrome, MIM# 609049

Green LAMB2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pierson syndrome, MIM# 609049
  • Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199

Green LAMB2 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pierson syndrome, MIM# 609049
    • Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199

    Green LAMB2 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
    • Pierson syndrome, MIM#609049

    Red LAMB2 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
    • Pierson syndrome, MIM# 609049
    • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations

    Green LAMB2 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
    • Pierson syndrome, 609049 (3)

    Green LAMB2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Pierson syndrome

    Amber LAMB2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Pierson syndrome-MIM#609049
    • Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199

    Green LAMB2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pierson syndrome, 609049 (3)

    Red LAMB2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
    • Pierson syndrome, MIM# 609049

    Green LAMB2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pierson syndrome, 609049 (3)