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 1.142	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 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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 Tags for-review to_be_confirmed_NHSE
Green CFI in Atypical haemolytic uraemic syndrome Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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 Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 1.119 Component of the following Super Panels: Renal superpanel - broad	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
Green CFI in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 Complement factor I deficiency, OMIM:610984
Green CFI in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Complement factor I deficiency, 610984