Complement Deficiencies
Gene: C1SEnsemblGeneIds (GRCh38): ENSG00000182326
EnsemblGeneIds (GRCh37): ENSG00000182326
OMIM: 120580, Gene2Phenotype
C1S is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
>3 unrelated families reportedCreated: 15 Mar 2022, 3:20 a.m. | Last Modified: 15 Mar 2022, 3:20 a.m.
Panel Version: 0.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C1s deficiency MIM#613783
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- C1s deficiency MIM#613783
- OMIM
- 120580
- Clinvar variants
- Variants in C1S
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C1S were changed from to C1s deficiency MIM#613783
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: C1S were set to
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C1S was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: c1s has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C1S was added gene: C1S was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: C1S was set to Unknown