Cytopenia - NOT Fanconi anaemia
Gene: CD40
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: Autosomal recessive but seems to be indistinguishable from the X-linked CD40LG form; North West GLH: CD40 deficiency /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 CD40.
Source Expert review Red was added to CD40.
Mode of inheritance for gene CD40 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
gene: CD40 was added gene: CD40 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: CD40 was set to