Inherited bleeding disordersGene: CDC42
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
Tag de novo tag was added to gene: CDC42.
Gene: cdc42 has been classified as Green List (High Evidence).
Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, 616737; Platelet disorder
Publications for gene: CDC42 were set to
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