1. Genes and Genomic Entities
  2. MYO9A

MYO9A

myosin IXA
OMIM: 604875, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red MYO9A in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Green MYO9A in Congenital myaesthenic syndrome


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
    • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
    Green MYO9A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
    • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597