Complement Deficiencies

Gene: C9

Green List (high evidence)

C9 (complement C9)
EnsemblGeneIds (GRCh38): ENSG00000113600
EnsemblGeneIds (GRCh37): ENSG00000113600
OMIM: 120940, Gene2Phenotype
C9 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 unrelated families. Noted that p.Arg116Ter is a Japanese founder
Created: 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

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c9 has been classified as Green List (High Evidence).

21 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C9 were set to

21 Mar 2022, Gel status: 3

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

17 Nov 2019, Gel status: 3

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