1. Genes and Genomic Entities
  2. SLC18A3

SLC18A3

solute carrier family 18 member A3
OMIM: 600336, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC18A3 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

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


Level 2: Neurology
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

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