SLC18A3

solute carrier family 18 member A3
OMIM: 600336, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC18A3 in Neuromuscular disorders


Version 5.243
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
  • ophthalmopleggia and apnea
  • Congenital myasthenic syndrome

Amber SLC18A3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.130
Latest signed off version: v3.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
  • arthrogryposis

Green SLC18A3 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.38
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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

    Amber SLC18A3 in Fetal anomalies


    Version 1.732
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green SLC18A3 in Severe Paediatric Disorders


    Version 1.84

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