Primary immunodeficiencyGene: LRRC8A
Original metadata downloaded from ESID Registry. ESID_Gene_original: LRRC8, PanelApp HGNC gene symbol check: LRRC8A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Agammaglobulinemias / Agammaglobulinemia
Created: 17 Apr 2018, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Three negative expert reviews. No disease association on Gen2Phen. LRRC8A truncated as a result of a reciprocal translocation in one patien in publication
Created: 11 May 2016, 9:59 a.m.
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.
ESID Registry 20171117 was added to LRRC8A. Panel: Primary immunodeficiency disorders Phenotypes for gene LRRC8A were set to Agammaglobulinemia 5, 613506, Agammaglobulinemia
LRRC8A was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25
LRRC8A was created by Louise Daugherty