SPOP

speckle type BTB/POZ protein
OMIM: 602650
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nabais Sa-de Vries syndrome, type 1, 618828, Nabais Sa-de Vries syndrome, type 2, 618829