Genomics England
GMS Panels
Panels
Genes and Entities

SLC18A3

solute carrier family 18 member A3
OMIM: 600336
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239, Congenital myasthenic syndrome 21, MONDO:0014983