Primary immunodeficiencyGene: COLEC11
No evident link to immunodeficiency
Created: 11 Jun 2018, 2:59 p.m.
External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel
Created: 12 Jun 2018, 12:28 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: COLEC11, PanelApp HGNC gene symbol check: COLEC11, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Mannan-binding lectin serine protease (MASP) deficiency
Created: 17 Apr 2018, 12:29 p.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.
Gene: colec11 has been classified as Red List (Low Evidence).
COLEC11 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
COLEC11 was created by Louise Daugherty