PanelApp (test)
  1. Genes and Genomic Entities
  2. MTMR14

MTMR14

myotubularin related protein 14
OMIM: 611089, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MTMR14 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services

Amber MTMR14 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    • Expert Review Amber
    • Expert list
    Phenotypes
    • {Centronuclear myopathy, autosomal, modifier of} (MIM#160150)