PanelApp
  1. Genes and Genomic Entities
  2. MYO9A

MYO9A

myosin IXA
OMIM: 604875, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber MYO9A in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  2 reviews 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 1.405

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

    Amber MYO9A in Mendeliome


    Version 1.3795

    		1 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 1.18

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  2 reviews 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 1.14

    		1 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 1.481

    		2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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