PAK3

p21 (RAC1) activated kinase 3
OMIM: 300142
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AGENESIS OF THE CORPUS CALLOSUM, MENTAL RETARDATION X-LINKED TYPE 30 300558
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 30, AGENESIS OF THE CORPUS CALLOSUM
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 30/47, 300558, Mental Retardation, X-linked, AGENESIS OF THE CORPUS CALLOSUM