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Mackenzie's Mission_Reproductive Carrier Screening

Gene: C8B

Green List (high evidence)

C8B (complement C8 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000021852
EnsemblGeneIds (GRCh37): ENSG00000021852
OMIM: 120960, Gene2Phenotype
C8B is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C8 deficiency, type II, 613789 (3)
OMIM
120960
Clinvar variants
Variants in C8B
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C8B was added gene: C8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)