Complement Deficiencies
Gene: C1QB

C1QB (complement C1q B chain)
EnsemblGeneIds (GRCh38): ENSG00000173369
EnsemblGeneIds (GRCh37): ENSG00000173369
OMIM: 120570, Gene2Phenotype
C1QB is in 6 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
Created: 15 Mar 2022, 1:35 a.m. | Last Modified: 15 Mar 2022, 1:35 a.m.

Panel Version: 0.11365

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C1q deficiency, MIM# 613652

Publications

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

Created: 15 Mar 2022, 1:35 a.m.
Last Modified: 15 Mar 2022, 1:35 a.m.
Panel version: Imported from Mendeliome panel version 0.11365

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 22 Jul 2021, 7:25 a.m. | Last Modified: 22 Jul 2021, 7:25 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C1q deficiency, MIM# 613652

Publications

Created: 22 Jul 2021, 7:25 a.m.
Last Modified: 22 Jul 2021, 7:25 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

C1q deficiency, MIM# 613652

OMIM

120570

Clinvar variants

Variants in C1QB

Penetrance

None

Publications

Panels with this gene