Complement Deficiencies
Gene: C8BEnsemblGeneIds (GRCh38): ENSG00000021852
EnsemblGeneIds (GRCh37): ENSG00000021852
OMIM: 120960, Gene2Phenotype
C8B is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
> 5 familiesCreated: 21 Mar 2022, 3:48 a.m. | Last Modified: 21 Mar 2022, 3:48 a.m.
Panel Version: 0.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C8 deficiency, type II MIM#613789
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
-
- C8 deficiency, type II MIM#613789
- OMIM
- 120960
- Clinvar variants
- Variants in C8B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: c8b has been classified as Green List (High Evidence).
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C8B 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: C8B was added gene: C8B 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: C8B was set to Unknown