Genomics England
GMS Panels
Panels
Genes and Entities

CDC42

cell division cycle 42
OMIM: 116952
PanelMode of inheritanceDetails
4 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
616737 Takenouchi-Kosaki syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CDC42-related Neurodevelopmental Disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Takenouchi-Kosaki syndrome, 616737, Intellectual disability
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neonatal-onset cytopaenia with dyshaematopoiesis, autoinflammation, rash, HLH