CFI

complement factor I
OMIM: 217030, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CFI in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS Inherited complement deficiency v0.11 GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Inherited complement deficiency v0.11 Phenotypes {Macular degeneration, age-related, 13, susceptibility to}, 615439 Complement factor I deficiency Factor I deficiency {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia Complement Deficiencies Immunodeficiency with factor I anomaly C3b inactivator deficiency Complement factor I deficiency, 610984
Green CFI in Membranoproliferative glomerulonephritis including C3 glomerulopathy Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Immune-complex-mediated MPGN Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
Green CFI in Atypical haemolytic uraemic syndrome Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 Complement factor I deficiency, OMIM:610984
Green CFI in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Inherited complement deficiency v0.11 Phenotypes Complement factor I deficiency, 610984 {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 {Macular degeneration, age-related, 13, susceptibility to}, 615439 Complement factor I deficiency C3b inactivator deficiency Factor I deficiency Immunodeficiency with factor I anomaly Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia Complement Deficiencies
Green CFI in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 Complement factor I deficiency, OMIM:610984
Amber CFI in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Complement factor I deficiency
Red CFI in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Macular degeneration, age related, 13, susceptibility to, OMIM:615439 retinal disorder, MONDO:0005283