Complement Deficiencies
Gene: C2

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association
Created: 15 Mar 2022, 3:54 a.m. | Last Modified: 15 Mar 2022, 3:54 a.m.

Panel Version: 0.11388

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C2 deficiency MIM#217000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2022, 3:54 a.m.
Last Modified: 15 Mar 2022, 3:54 a.m.
Panel version: Imported from Mendeliome panel version 0.11390

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Expert Review Green

OMIM

613927

Clinvar variants

Variants in C2

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C2 was added gene: C2 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: C2 was set to Unknown

Complement Deficiencies Gene: C2