Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: FCGR3A

Amber List (moderate evidence)

FCGR3A (Fc fragment of IgG receptor IIIa)
EnsemblGeneIds (GRCh38): ENSG00000203747
EnsemblGeneIds (GRCh37): ENSG00000203747
OMIM: 146740, Gene2Phenotype
FCGR3A is in 3 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

Three patients reported in the literature homozygous for a specific variant in this gene p.(Leu66His) as noted in previous reviews; however, also note high population frequency, including homozygotes in ExAC.
Created: 12 Jul 2018, 10:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
predisposition to severe viral infection

Louise Daugherty (Genomics England Curator)

I don't know

Additional external review added so this gene was reviewed again. Agree to keep this gene Amber until further evidence, noted there is a high population frequency, including homozygotes in ExAC but also Green review from Sophie Hambleton
Created: 21 Sep 2018, 11:19 a.m.
Three cases, single variant identified to date. Rated amber for now and added watchlist tag. Will review again if further evidence to support Green rating by external expert.
Created: 11 Jul 2018, 4:15 p.m.
Previous approved gene symbol CD16
Created: 4 Jul 2018, 9:30 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FCGR3A .PanelApp HGNC gene symbol check: FCGR3A . IUIS Disease: CD16 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: NK cells. IUIS Associated features: severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection
Created: 2 Jul 2018, 10:35 a.m.
Only a single variant reported in three unrelated cases with NK cells, not strong PID evidence. Keep Amber until more info on gene and disease association, refer to external expert review.
Created: 18 Jun 2018, 4 p.m.
Comment on publications: added publications to support phenotype. A single variant has been reported in three unrelated cases. However it has been noted that high frequency of the variant NM_001127593.1:c.197T>A in the general population (5 homozygotes in ExAC), but homozygous change at this position has been reported in 3 individuals with NK cell deficiency. 2 probands had recurrent upper respiratory infections. In vitro study shows possible functional impact (PMID 23006327)
Created: 18 Jun 2018, 3:45 p.m.
Results in defects in Intrinsic and Innate Immunity, clinical features include severe herpes viral infections particularly VZV, Epstein Barr virus (EBV), and (HPV)
Created: 18 Jun 2018, 3:34 p.m.
Comment on phenotypes: added phenotype from orphanet
Created: 18 Jun 2018, 3:20 p.m.
Comment on phenotypes: added OMIM MIMid
Created: 18 Jun 2018, 3:19 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in 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: FCGR3A, PanelApp HGNC gene symbol check: FCGR3A, 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: FCGR3A, GRID_Gene_Symbol: FCGR3A, GRID_Transcript_ENS_Community submitted: ENST00000367969, GRID_Transcript_RefSeq: NM_001127593.1, GRID_Transcript_ENS_used_on_Production: ENST00000367969
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 20, 615707
  • CD16 deficiency
  • Defects in Intrinsic and Innate Immunity
  • Fc receptor deficiencies
  • predisposition to severe viral infection
  • severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
  • Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
Tags
watchlist
OMIM
146740
Clinvar variants
Variants in FCGR3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to FCGR3A. Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV) for gene: FCGR3A Publications for gene FCGR3A were updated from 8608639; 8874200; 23006327; 8609432 to 8874200; 23006327; 32048120; 8609432; 8608639; 32086639

12 Jul 2018, Gel status: 2

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.

11 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fcgr3a has been classified as Amber List (Moderate Evidence).

3 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FCGR3A were set to Immunodeficiency 20, 615707; Fc receptor deficiencies; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; CD16 deficiency; severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV); Defects in Intrinsic and Innate Immunity; predisposition to severe viral infection

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FCGR3A were set to Immunodeficiency 20, 615707, Fc receptor deficiencies, Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, CD16 deficiency, severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV), Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to FCGR3A. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to FCGR3A. Panel: Primary immunodeficiency disorders

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FCGR3A were set to 8608639; 8874200; 23006327; 8609432

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FCGR3A were set to 8608639; 8874200; 23006327

18 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FCGR3A were set to Immunodeficiency 20, 615707; Fc receptor deficiencies; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; CD16 deficiency

18 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FCGR3A were set to Immunodeficiency 20, 615707; Fc receptor deficiencies; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity

18 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FCGR3A were set to Immunodeficiency 20, 615707; Fc receptor deficiencies

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to FCGR3A. 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 FCGR3A. Panel: Primary immunodeficiency disorders Phenotypes for gene FCGR3A were set to Immunodeficiency 20, Fc receptor deficiencies

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FCGR3A were set to Immunodeficiency 20

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

FCGR3A was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

FCGR3A was created by Louise Daugherty