1. Genes and Genomic Entities
  2. SMPX

SMPX

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SMPX in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075
    • myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
    Tags
    • Q3_23_promote_green
    • Q3_23_MOI
    Green SMPX in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    Green SMPX in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, X-linked 4, 300066