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 5.9

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 3.0

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 2.0

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