Genomics England
GMS Panels
Panels
Genes and Entities

C1S

complement C1s
OMIM: 120580
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome periodontal type 2, 617174, Periodontal Ehlers-Danlos syndrome, Periodontal EDS, pEDS, EDS type VIII
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C1s deficiency, 613783, C1s deficiency, Lupus, Complement component 1 deficiency, SLE, pyogenic infections, SLE, infections with encapsulated organisms, Ehlers Danlos phenotype, Complement Deficiencies