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  2. Defects of intrinsic and innate immunity
  3. FCGR3A
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Defects of intrinsic and innate immunity

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three patients reported in the literature homozygous for a specific variant in this gene p.(Leu66His); however, also note high population frequency, including homozygotes in ExAC.
Created: 10 Apr 2020, 6:53 a.m. | Last Modified: 10 Apr 2020, 6:53 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 20, MIM# 615707

Publications

Created: 10 Apr 2020, 6:53 a.m.
Last Modified: 10 Apr 2020, 6:53 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 20, MIM# 615707
OMIM
146740
Clinvar variants
Variants in FCGR3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707

10 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FCGR3A were set to

10 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FCGR3A was added gene: FCGR3A was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: FCGR3A was set to Unknown