MYO9A

myosin IXA
OMIM: 604875, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MYO9A in ClinGen Gene Validity Curations


Version 0.64

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

Amber MYO9A in Neuromuscular disorders


Version 5.51
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myasthenic syndrome
  • CMS

Red MYO9A in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

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

Green MYO9A in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Literature
    Phenotypes
    • congenital myasthenic syndrome 24, presynaptic 618198
    • CMS