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IBMDx study

Gene: CDC42

Green List (high evidence)
CDC42 (cell division cycle 42)
EnsemblGeneIds (GRCh38): ENSG00000070831
EnsemblGeneIds (GRCh37): ENSG00000070831
OMIM: 116952, Gene2Phenotype
CDC42 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Macrothrombocytopaenia is a feature.
Sources: Expert list
Created: 11 Aug 2020, 8:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Takenouchi-Kosaki syndrome, MIM#616737

Publications

Created: 11 Aug 2020, 8:42 a.m.

Panel version: Imported from Bleeding and Platelet Disorders panel version 0.48

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Takenouchi-Kosaki syndrome with thrombocytopenia
OMIM
116952
Clinvar variants
Variants in CDC42
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC42 was added gene: CDC42 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: CDC42 was set to Unknown Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome with thrombocytopenia