Cytopenia - NOT Fanconi anaemia
Gene: GP9
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 agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Bernard-Soulier syndrome (includes macrothrombocytopenia); North West GLH: Not isolated thrombocytopenia; 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 Amber was added to GP9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to GP9.
Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bernard-Soulier syndrome (includes macrothrombocytopenia); Bernard-Soulier syndrome, type C, 231200 for gene: GP9
gene: GP9 was added gene: GP9 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: GP9 was set to