Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FCGR3B
Comment on list classification: Changed from Amber to Red. Not strong PID, not an NK cell defect as it has been claimedCreated: 9 Jul 2018, 9:12 a.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: FCGR3B, PanelApp HGNC gene symbol check: FCGR3B, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Fc receptor deficiencies / Fc receptor deficienciesCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FCGR3B, GRID_Gene_Symbol: FCGR3B, GRID_Transcript_ENS_Community submitted: ENST00000531221, GRID_Transcript_RefSeq: NM_000570.4, GRID_Transcript_ENS_used_on_Production: ENST00000531221Created: 17 Apr 2018, 12:12 p.m.
Comment when marking as ready: Associated with Neutropenia, alloimmune neonatal on OMIM, no disease association on G2P, two expert reviewers suggest it as red and only found in 1/4 sourcesCreated: 24 May 2016, 8:14 p.m.
Maternal deficiency of the encoded protein can set the stage for transient neonatal isoimmune thrombocytopeniaCreated: 19 Oct 2015, 10:41 p.m.
Publications
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: fcgr3b has been classified as Red List (Low Evidence).
Gene: fcgr3b has been classified as Red List (Low Evidence).
Gene: fcgr3b has been classified as Amber List (Moderate Evidence).
Publications for gene: FCGR3B were set to 1978690
Publications for gene: FCGR3B were set to 1978690; 8609432
Phenotypes for gene: FCGR3B were set to Neutropenia,alloimmuneneonatal; Neutropenia, alloimmune neonatal; Fc receptor deficiencies; Neutropenia, autoimmune neonatal; Neutropenia, autoimmune neonatal
Publications for FCGR3B were set to 1978690
Expert Review Amber was added to FCGR3B. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to FCGR3B. Panel: Primary immunodeficiency disorders Phenotypes for gene FCGR3B were set to Neutropenia,alloimmuneneonatal, Neutropenia, alloimmune neonatal, Fc receptor deficiencies
Phenotypes for gene FCGR3B were set to Neutropenia,alloimmuneneonatal, Neutropenia, alloimmune neonatal
GRID V2.0 was added to FCGR3B. Panel: Primary immunodeficiency disorders Phenotypes for gene FCGR3B were set to Neutropenia,alloimmuneneonatal, Neutropenia, alloimmune neonatal
FCGR3B was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Congenital neutropaenia v1.22
FCGR3B was created by Louise Daugherty