Cytopenia - NOT Fanconi anaemiaGene: CDC42
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Takenouchi-Kosaki syndrome with thrombocytopenia; complex congenital developmental disorder affecting multiple organ systems; Doesn't appear to have been associated with isolated features, always syndromic; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Source Expert Review Red was added to CDC42.
Source Expert review Red was added to CDC42.
Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Takenouchi-Kosaki syndrome, 616737 for gene: CDC42
gene: CDC42 was added gene: CDC42 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: CDC42 was set to