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Prepair 1000+

Gene: C8B

Red List (low evidence)

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

3 reviews

Lauren Thomas (VIctorian Clinical Genetics Services)

I don't know

Complement component 8 deficiency is a form of immunodeficiency. People with this condition have a significantly increased risk of recurrent bacterial infections, particularly by Neisseria meningitidis. Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis). Established gene-disease association. Predisposes to severe, potentially life-threatening infections.

HGNC approved symbol/name: C8B
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes - pneumococcal, meningococcal, haemophilus influenzae vaccines
Known technical challenges? No
Gene reported in 3 independent families: Yes

Note: green gene on babyscreen+
Created: 21 Nov 2024, 6:19 a.m. | Last Modified: 21 Nov 2024, 6:19 a.m.
Panel Version: 1.581

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type II MIM#613789

Publications

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: susceptibility to infection - not suitable for reproductive screening panel
Created: 11 Aug 2022, 6:52 a.m. | Last Modified: 11 Aug 2022, 6:52 a.m.
Panel Version: 0.106

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

> 5 families reported. Component of complement (C8) is a very rare primary immunodeficiency, associated with invasive, recurrent infections mainly caused by Neisseria species.

PMID: 27183977: Patients with C8 complement deficiency, the average age of onset was found to be 17 years and only 10% of the cases occurred before 5 years of age.
Created: 21 Jul 2022, 3:03 a.m. | Last Modified: 21 Jul 2022, 3:03 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type II (MIM#613789)

Publications

Details

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

History Filter Activity

18 Aug 2022, Gel status: 1

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: C8B.

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: c8b has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: c8b has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: C8B were changed from C8 deficiency, type II, 613789 (3) to C8 deficiency, type II (MIM#613789)

11 Aug 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: C8B were set to

21 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: C8B.

1 Jun 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 Reproductive Carrier Screen_VCGS. 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)