Cytopenia - NOT Fanconi anaemia
Gene: LAMTOR2
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: Seems to be more involved with B cell development - better placed on the SCID panel? Associated with neutropenia (accumulation of neutrophils in the bone marrow), short stature and skin hypopigmentation (albinism); North West GLH: Primary immunodeficiency syndrome; 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 LAMTOR2.
Source Expert review Red was added to LAMTOR2.
Mode of inheritance for gene LAMTOR2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, 610798 for gene: LAMTOR2
gene: LAMTOR2 was added gene: LAMTOR2 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: LAMTOR2 was set to