C1R

PanelMode of inheritanceDetails
2 panels
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome periodontal type 1, 130080, Periodontal Ehlers-Danlos syndrome, Periodontal EDS, pEDS, EDS type VIII, Ehlers-Danlos Syndrome periodontitis type, EDSVIII, EDSPD1
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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