Cytopenia - NOT Fanconi anaemia
Gene: ARPC1B
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: Platelet structural abnormalities with eosinophilia and immune-mediated inflammatory disease, unlikely to present as simple thrombocytopenia; North West GLH: Immunodeficiency and 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: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Source Expert Review Red was added to ARPC1B.
Source Expert review Red was added to ARPC1B.
Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
gene: ARPC1B was added gene: ARPC1B 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: ARPC1B was set to