Genomics England
GMS Panels
Panels
Genes and Entities

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 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AGENESIS OF THE CORPUS CALLOSUM, MENTAL RETARDATION X-LINKED TYPE 30 300558
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 30, AGENESIS OF THE CORPUS CALLOSUM
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
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