PanelApp
  1. Genes and Genomic Entities
  2. CHAT

CHAT

choline O-acetyltransferase
OMIM: 118490, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CHAT in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic, 254210
    Tags
    • treatable

    Green CHAT in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital myasthenics syndrome associated with episodic apnea
    • Myasthenic syndrome, congenital, 6, presynaptic, 254210
    Tags
    • treatable

    Green CHAT in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Congenital myasthenics syndrome associated with episodic apnea
    • Myasthenic syndrome, congenital, 6, presynaptic, 254210
    Tags
    • treatable

    Green CHAT in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)

    Green CHAT in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Congenital myasthenic syndrome

    Green CHAT in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210
    Tags
    • treatable

    Green CHAT in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic 254210

    Green CHAT in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)

    Green CHAT in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS:BabySeq Category A gene
    Phenotypes
    • Congenital myasthenic syndrome, MIM#254210
    Tags
    • treatable
    • neurological

    Green CHAT in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 6, presynaptic MIM#254210