1. Genes and Genomic Entities
  2. MTMR14

MTMR14

myotubularin related protein 14
OMIM: 611089, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber MTMR14 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
    Tags
    • watchlist
    No list MTMR14 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Removed
    • DD-Gene2Phenotype
    Phenotypes
    • CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150
    Tags
    • polygenic
    • curated_removed
    Red MTMR14 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Gene2Phenotype
    Phenotypes
    • {Centronuclear myopathy, autosomal, modifier of}, 160150
    • Autosomal dominant centronuclear myopathy