C3

complement C3
OMIM: 120700, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green C3 in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2022 IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green GRID V2.0 ESID Registry 20171117 IUIS Classification February 2018 Victorian Clinical Genetics Services Phenotypes Complement Deficiencies Complement component 3 deficiency Atypical hemolytic-uremic syndrome, dense deposit disease Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations C3 deficiency, 613779
Green C3 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925 C3 glomerulopathy C3G
Green C3 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
Green C3 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 Expert Review Green GRID V2.0 ESID Registry 20171117 IUIS Classification February 2018 Victorian Clinical Genetics Services Phenotypes C3 deficiency, 613779 Complement component 3 deficiency Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations Atypical hemolytic-uremic syndrome, dense deposit disease Complement Deficiencies
Green C3 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes C3 deficiency 613779 AR {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Red C3 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Macular Degeneration
Green C3 in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 1.4 Latest signed off version: v1.1 (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 Phenotypes C3 deficiency, OMIM:613779 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925