1. Genes and Genomic Entities
  2. UNC45B

UNC45B

unc-45 myosin chaperone B
OMIM: 611220, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber UNC45B in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myofibrillar myopathy 11, OMIM:619178
    Tags
    • Q4_22_promote_green
    • Q4_22_expert_review
    • Q4_22_NHS_review
    Green UNC45B in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UNC45B-associated Progressive Myopathy with Eccentric Cores