1. Genes and Genomic Entities
  2. MYO9A

MYO9A

myosin IXA
OMIM: 604875, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MYO9A in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Arthrogryposis
  • OrphaNet: ORPHA109007
Red MYO9A in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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