1. Genes and Genomic Entities
  2. SLC18A3

SLC18A3

solute carrier family 18 member A3
OMIM: 600336, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SLC18A3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
  • arthrogryposis, MONDO:0008779
Tags
  • Q2_24_promote_green
  • Q2_24_NHS_review
Green SLC18A3 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
    Green SLC18A3 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
    • Congenital myasthenic syndrome 21, MONDO:0014983
    Green SLC18A3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 21, presynaptic, 617239