Primary immunodeficiencyGene: TCIRG1
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TCIRG1 .PanelApp HGNC gene symbol check: TCIRG1 . IUIS Disease: TCIRG1 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: Increased CD4-CD8-TCR a/bdouble negative (DN) T cells, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:25 p.m.
Source IUIS Classification December 2019 was added to TCIRG1. Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia for gene: TCIRG1 Publications for gene TCIRG1 were updated from to 32048120; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene TCIRG1 were set to Osteopetrosis with hypocalcemia, Defects in Intrinsic and Innate Immunity
TCIRG1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
TCIRG1 was created by Louise Daugherty