Complement Deficiencies
Gene: FCN3EnsemblGeneIds (GRCh38): ENSG00000142748
EnsemblGeneIds (GRCh37): ENSG00000142748
OMIM: 604973, Gene2Phenotype
FCN3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five unrelated individuals but all with same homozygous variant. Note large number of homozygotes present in Gnomad.Created: 10 Apr 2020, 7:17 a.m. | Last Modified: 10 Apr 2020, 7:17 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
- OMIM
- 604973
- Clinvar variants
- Variants in FCN3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FCN3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FCN3 was added gene: FCN3 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: FCN3 was set to Unknown