SPTAN1

spectrin alpha, non-erythrocytic 1
OMIM: 182810
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 5
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
Epileptic encephalopathy, early infantile, 5, 613477, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 (EIEE5)