Complement Deficiencies
Gene: C9EnsemblGeneIds (GRCh38): ENSG00000113600
EnsemblGeneIds (GRCh37): ENSG00000113600
OMIM: 120940, Gene2Phenotype
C9 is in 4 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
>5 unrelated families. Noted that p.Arg116Ter is a Japanese founderCreated: 21 Mar 2022, 4:12 a.m. | Last Modified: 21 Mar 2022, 4:12 a.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C9 deficiency MIM#613825
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
-
- C9 deficiency MIM#613825
- OMIM
- 120940
- Clinvar variants
- Variants in C9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: c9 has been classified as Green List (High Evidence).
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: C9 were set to
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C9 was added gene: C9 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: C9 was set to Unknown