SMPX

small muscle protein, X-linked
OMIM: 300226, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SMPX in Distal myopathies


Level 2: Neurology
Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075
    • myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
    Green SMPX in Monogenic hearing loss


    Level 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Nonsyndromic Hearing Loss, X-Linked
    • Deafness, X-linked 4, 300066
    • hearing loss