Cytopenia - NOT Fanconi anaemia

Gene: GP1BA

I don't know

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: Mild macrothrombocytopenia; North West GLH: Platelet type VWD, mild 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

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be red for R91 Cytopenia - NOT Fanconi anaemia panel

Created: 22 Jul 2019, 2:11 p.m. | Last Modified: 22 Jul 2019, 2:11 p.m.

Panel Version: 0.109

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200 Bernard-Soulier syndrome, type A1; PMID(s): 2308962

Created: 8 Feb 2019, 1:43 p.m.

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.

Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
231200 Bernard-Soulier syndrome, type A1

Variants in this GENE are reported as part of current diagnostic practice