Cytopenia - NOT Fanconi anaemia
Gene: GINS1
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: Blockade in the bone marrow, typically associated with IUGR but not always. Affects multiple lineages (Neutrophils, NK cells) therefore appropriate to include on cytopenia panel. Amber because only one case did not have accompanying IUGR; 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
Source Expert Review Red was added to GINS1.
Source Expert review Red was added to GINS1.
Mode of inheritance for gene GINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 55, 617827 for gene: GINS1
gene: GINS1 was added gene: GINS1 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: GINS1 was set to