C2

complement C2
OMIM: 613927, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red C2 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.6	review	Not set	Sources Expert Review Red Other Phenotypes discoid lupus erythematosus discoid (cutaneous) lupus
Green C2 in COVID-19 research Level 2: Viral research Version 1.146	review	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 Complement Component C2 Deficiency Lupus Complement Deficiencies SLE, infections with encapsulated organisms, atherosclerosis C2 deficiency, 217000 Immunodeficiency due to C1, C4, or C2 component complement deficiency
Red C2 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Phenotypes discoid (cutaneous) lupus discoid lupus erythematosus
Green C2 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 C2 deficiency, OMIM:217000 complement component 2 deficiency, MONDO:0009006 Tags Q2_25_ MOI
Red C2 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, age-related, 14, reduced risk of}, OMIM:615489