Primary lymphoedema

Gene: CDC42

Red List (low evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Single variant reported
Created: 2 Nov 2016, 11:17 a.m.

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 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

2 Nov 2016, Gel status: 1

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

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CDC42 was created by sleigh

30 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CDC42 was added to Lymphatic Disorderspanel. Sources: Literature