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  2. Bleeding and Platelet Disorders
  3. CDC42
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Bleeding and Platelet Disorders

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: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Takenouchi-Kosaki syndrome, MIM#616737
OMIM
116952
Clinvar variants
Variants in CDC42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdc42 has been classified as Green List (High Evidence).

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdc42 has been classified as Green List (High Evidence).

11 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC42 was added gene: CDC42 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC42 were set to 29394990 Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737 Review for gene: CDC42 was set to GREEN