SHANK3

SH3 and multiple ankyrin repeat domains 3
OMIM: 606230
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Phelan-McDermid syndrome, OMIM:606232, Phelan-McDermid syndrome, MONDO:0011652
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
Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950, PHELAN-MCDERMID SYNDROME
R-numbers: R136
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Phelan-McDermid syndrome 606232