Cytopenia - NOT Fanconi anaemiaGene: CLPB
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: 14 patients in original cohort. Phenotype varies from severe neuropathy to just neutropenia with cataracts, although elevated 3-MGA in urine is diagnostic in all patients; North West GLH: Progressive brain atrophy, intellectual disability, neutropaenia, cataracts & movement disorder; 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 CLPB.
Source Expert review Red was added to CLPB.
Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
gene: CLPB was added gene: CLPB 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: CLPB was set to