Cytopenia - NOT Fanconi anaemia
Gene: MSN
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: 5 families with profound lymphopenia, hypogammaglobinaemia, fluctuating monocytopenia and neutropenia - probably fits better on SCID panel?; North West GLH: Primary immunodeficiency; Yorkshire and North East GLH: Primary immunodeficiency ;London South GLH: Primary immunodeficiency.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 MSN.
Source Expert review Red was added to MSN.
Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Immunodeficiency 50, 300988 for gene: MSN
gene: MSN was added gene: MSN 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: MSN was set to