MYO9A

myosin IXA
OMIM: 604875, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber MYO9A in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198

Red MYO9A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198

Amber MYO9A in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic, MIM# 618198

Amber MYO9A in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 1.10

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Congenital myasthenic syndrome 24, presynaptic 618198

    Amber MYO9A in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198

    Amber MYO9A in Fetal anomalies


    Version 1.313

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
    • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597

    Red MYO9A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198