Genomics England
GMS Panels
Panels
Genes and Entities

C1R

complement C1r
OMIM: 613785
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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