PanelApp (test)
  1. Genes and Genomic Entities
  2. MTMR14:Ensemblv90

MTMR14:Ensemblv90

myotubularin related protein 14
OMIM: 611089, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MTMR14 in Mendeliome


Version 1.3802

3 reviews 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 1.112

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

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

    Amber MTMR14 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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