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Intellectual disability syndromic and non-syndromic

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

Lorraine Skalicka (Genomic Diagnostics, Healius)

Green List (high evidence)

CDC42, a member of the Rho GTPase family, regulates signaling pathways that control diverse cellular functions, including cell morphology, migration, endocytosis and cell cycle progression.

De novo heterozygous variants in CDC42 have been reported in 17 unrelated individuals with Takenouchi-Kosaki syndrome (OMIM: 616737), in which ID is a phenotype.
Created: 5 Dec 2022, 11:59 a.m. | Last Modified: 5 Dec 2022, 11:59 a.m.
Panel Version: 0.5079

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Takenouchi-Kosaki syndrome; Intellectual disability

Publications

Details

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

History Filter Activity

6 Dec 2022, 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).

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDC42 were set to

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737

6 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC42 was added gene: CDC42 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDC42 was set to Unknown