C1R

complement C1r
OMIM: 613785, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green C1R in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2020 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 IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes SLE pyogenic infections Complement component 1 deficiency SLE, infections with encapsulated organisms, Ehlers Danlos phenotype Complement Deficiencies C1r/C1s deficiency, combined, Lupus Immunodeficiency due to a classical component pathway complement deficiency
Green C1R 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 Phenotypes C1r/C1s deficiency, combined, Lupus Complement component 1 deficiency Immunodeficiency due to a classical component pathway complement deficiency SLE pyogenic infections SLE, infections with encapsulated organisms, Ehlers Danlos phenotype Complement Deficiencies Tags early-onset
Green C1R in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080