Cytopenia - NOT Fanconi anaemia
Gene: STK4
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: SCID with cardiac defects, not likely to present as isolated neutropenia; North West GLH: Syndromic, not isolated thrombocytopenia (all cell types affected); 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 STK4.
Source Expert review Red was added to STK4.
Mode of inheritance for gene STK4 was changed from to Unknown Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4
gene: STK4 was added gene: STK4 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: STK4 was set to