Inherited bleeding disorders

Gene: CDC42

Green List (high evidence)

CDC42 (cell division cycle 42)
EnsemblGeneIds (GRCh38): ENSG00000070831
EnsemblGeneIds (GRCh37): ENSG00000070831
OMIM: 116952, Gene2Phenotype
CDC42 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence in the literature to support gene-disease association and relevance to this panel to rate this gene Green. At least 17 unrelated individuals with de novo variants have been reported in the literature
Created: 20 Sep 2018, 10:12 a.m.
Comment on publications: Added publications suggested to support upgrading of the gene to Green
Created: 20 Sep 2018, 9:55 a.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list, Literature
Created: 20 Sep 2018, 9:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
  • Platelet disorder
Tags
de novo
OMIM
116952
Clinvar variants
Variants in CDC42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag de novo tag was added to gene: 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: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

20 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CDC42 were set to

20 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDC42 was added gene: CDC42 was added to Inherited bleeding disorders. Sources: Expert list,Literature Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: CDC42 was set to GREEN