Primary immunodeficiencyGene: CDC42
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:08 p.m. | Last Modified: 20 Oct 2020, 3:08 p.m.
Panel Version: 2.343
Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with a suggested Green rating based on evidence she has provided.
As well as the listed cases there is another paper (PMID: 31271789) describing 4 unrelated cases with de novo variants in CDC42 (p.C188Y, p.R186C, p.*192C*24). The patients predominantly had systemic autoinflammatory disease and development of HLH.
Therefore there is enough evidence to rate this gene as Green.
Created: 5 May 2020, 3:04 p.m. | Last Modified: 5 May 2020, 3:04 p.m.
Panel Version: 2.153
PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 variant (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Yet another individual in PMID 32231661 with different de novo variant, p.Cys81Tyr who in addition developed haematological malignancy and also had syndromic features, including ID. Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Created: 30 Apr 2020, 11:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH
Gene: cdc42 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CDC42.
Gene: cdc42 has been classified as Green List (High Evidence).
Publications for gene: CDC42 were set to 31601675; 32303876; 32231661
gene: CDC42 was added gene: CDC42 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC42 were set to 31601675; 32303876; 32231661 Phenotypes for gene: CDC42 were set to Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH Review for gene: CDC42 was set to GREEN