Cytopenia - NOT Fanconi anaemia
Gene: PSMB8
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:Various autoinflammatory disorders, does not appear to present as thrombocytopenia; North West GLH: Syndromic, 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
Phenotypes for gene: PSMB8 were changed from Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Source Expert Review Red was added to PSMB8.
Source Expert review Red was added to PSMB8.
Mode of inheritance for gene PSMB8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 for gene: PSMB8
gene: PSMB8 was added gene: PSMB8 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: PSMB8 was set to