SLC12A5

solute carrier family 12 member 5
OMIM: 606726
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
epilepsy of infancy with migrating focal seizures (EIMFS), Epileptic encephalopathy, early infantile, 34, 616645, {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FEBRILE SEIZURES