Primary lymphoedema
Gene: CDC42EnsemblGeneIds (GRCh38): ENSG00000070831
EnsemblGeneIds (GRCh37): ENSG00000070831
OMIM: 116952, Gene2Phenotype
CDC42 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Single variant reportedCreated: 2 Nov 2016, 11:17 a.m.
Pia Ostergaard (St George's)
Not in the lymphoedema clinicCreated: 1 Nov 2016, 3:51 p.m.
Mode of inheritance
Unknown
Phenotypes
Takenouchi-Kosaki syndrome 616737
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Takenouchi-Kosaki syndrome 616737
- OMIM
- 116952
- Clinvar variants
- Variants in CDC42
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Sarah Leigh (Genomics England Curator)CDC42 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)CDC42 was added to Lymphatic Disorderspanel. Sources: Literature