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Intellectual disability

Gene: CDC42

Green List (high evidence)

CDC42 (cell division cycle 42)
EnsemblGeneIds (GRCh38): ENSG00000070831
EnsemblGeneIds (GRCh37): ENSG00000070831
OMIM: 116952, Gene2Phenotype
CDC42 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert review, who notes that there are 17 unrelated individuals with de novo variants in this gene reported in the literature to date, ID is part of the phenotype. There are enough publications support gene-disease association and rating of this gene to Green.
Created: 20 Sep 2018, 10:17 a.m.

Zornitza Stark (Australian Genomics)

At least 17 unrelated individuals with de novo variants in this gene reported in the literature to date, ID is part of the phenotype.
Created: 22 Jun 2018, 10:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Takenouchi-Kosaki syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
  • Intellectual disability
OMIM
116952
Clinvar variants
Variants in CDC42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CDC42.

20 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Sep 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CDC42 were set to 26386261, 26708094, 29394990

20 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome to Takenouchi-Kosaki syndrome, 616737; Intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CDC42 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CDC42 was created by Zornitza Stark