SHANK2

SH3 and multiple ankyrin repeat domains 2
OMIM: 603290
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17)