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BabyScreen+ newborn 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Predisposes to severe, potentially life-threatening infections.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines
Created: 13 Oct 2022, 5:59 a.m. | Last Modified: 13 Oct 2022, 5:59 a.m.
Panel Version: 0.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type II MIM#613789

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • C8 deficiency, type II, MIM# 613789
Tags
treatable immunological
OMIM
120960
Clinvar variants
Variants in C8B
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: C8B. Tag immunological tag was added to gene: C8B.

13 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c8b has been classified as Green List (High Evidence).

18 Sep 2022, 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 gNBS. Sources: BeginNGS,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, MIM# 613789