Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: FCGR3B

Red List (low evidence)

FCGR3B (Fc fragment of IgG receptor IIIb)
EnsemblGeneIds (GRCh38): ENSG00000162747
EnsemblGeneIds (GRCh37): ENSG00000162747
OMIM: 610665, Gene2Phenotype
FCGR3B is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

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.

Tracy Briggs (Manchester Genomic Medicine Centre)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Neutropenia,alloimmuneneonatal
  • Neutropenia, alloimmune neonatal
  • Fc receptor deficiencies
  • Neutropenia, autoimmune neonatal
  • Neutropenia, autoimmune neonatal
OMIM
610665
Clinvar variants
Variants in FCGR3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

9 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fcgr3b has been classified as Red List (Low Evidence).

9 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fcgr3b has been classified as Red List (Low Evidence).

27 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fcgr3b has been classified as Amber List (Moderate Evidence).

19 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FCGR3B were set to 1978690

19 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FCGR3B were set to 1978690; 8609432

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FCGR3B were set to Neutropenia,alloimmuneneonatal; Neutropenia, alloimmune neonatal; Fc receptor deficiencies; Neutropenia, autoimmune neonatal; Neutropenia, autoimmune neonatal

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FCGR3B were set to 1978690

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to FCGR3B. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FCGR3B were set to Neutropenia,alloimmuneneonatal, Neutropenia, alloimmune neonatal

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to FCGR3B. Panel: Primary immunodeficiency disorders Phenotypes for gene FCGR3B were set to Neutropenia,alloimmuneneonatal, Neutropenia, alloimmune neonatal

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

FCGR3B was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Congenital neutropaenia v1.22

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

FCGR3B was created by Louise Daugherty