PanelApp (test)
  1. Genes and Genomic Entities
  2. LRP12

LRP12

LDL receptor related protein 12
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green LRP12-ALS_CGG STR in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis MONDO:0004976
    • Amyotrophic lateral sclerosis 28, MIM# 620452

    Green OPDM1 STR 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngodistal myopathy 1 MIM#164310

    Green OPDM1 STR in Repeat Disorders


    Version 0.167

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngodistal myopathy 1 MIM#164310
    • Amyotrophic lateral sclerosis MONDO:0004976
    Tags
    • adult-onset