PanelApp
  1. Genes and Genomic Entities
  2. SLC18A3

SLC18A3

solute carrier family 18 member A3
OMIM: 600336, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SLC18A3 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 Amber
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, 617239
    • arthrogryposis

    Green SLC18A3 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239

    Green SLC18A3 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
    • ophthalmopleggia and apnea
    • Myasthenic syndrome, congenital, 21, presynaptic, 617239

    Green SLC18A3 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239

    Amber SLC18A3 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
    • Congenital myasthenic syndrome 21, MONDO:0014983

    Green SLC18A3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
    Tags
    • treatable
    • neurological