Cytopenia - NOT Fanconi anaemia
Gene: IKZF1
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: IKZF1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13,616873; PMID(s): none submittedCreated: 6 Feb 2019, 3:13 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Source NHS GMS was added to IKZF1.
Source Expert Review Amber was added to IKZF1. Mode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acute lymphoblastic leukemia (ALL); Immunodeficiency, common variable, 13,616873 for gene: IKZF1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: IKZF1 was added gene: IKZF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: IKZF1 was set to