Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: FCGR3B

I don't know

Comment on list classification: Changed from Amber to Red. Not strong PID, not an NK cell defect as it has been claimed

Created: 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 deficiencies

Created: 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: ENST00000531221

Created: 17 Apr 2018, 12:12 p.m.

Red List (low evidence)

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 sources

Created: 24 May 2016, 8:14 p.m.

Red List (low evidence)

Maternal deficiency of the encoded protein can set the stage for transient neonatal isoimmune thrombocytopenia

Created: 19 Oct 2015, 10:41 p.m.

Publications

• 1978690