RILPL1

Rab interacting lysosomal protein like 1
OMIM: 614092, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green OPDM4 STR in Mendeliome


Version 1.2302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy MONDO:0025193
Green OPDM4_RILPL1_CGG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.42

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy MONDO:0025193
    Green OPDM4 STR in Repeat Disorders


    Version 0.168

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy MONDO:0025193