Cytopenia - NOT Fanconi anaemia
Gene: CD40LG
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: Patients with X-linked hyper IgM syndrome caused by CD40 ligand deficiency often present with episodic, cyclic or chronic neutropenia. Cabral-Marques 2018; North West GLH: Hyper-IgM syndrome; Yorkshire and North East GLH:no comment submitted;London South GLH: On immunodeficiency panel.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 CD40LG.
Source Expert review Red was added to CD40LG.
Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
gene: CD40LG was added gene: CD40LG 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: CD40LG was set to