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Inherited complement deficiency

Gene: C1QB

Green List (high evidence)

C1QB (complement C1q B chain)
EnsemblGeneIds (GRCh38): ENSG00000173369
EnsemblGeneIds (GRCh37): ENSG00000173369
OMIM: 120570, Gene2Phenotype
C1QB is in 5 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to this panel and promoted to green due to expert review by the ClinGen team and internal check from the Genomics England clinical team.
Created: 18 Jul 2017, 2:54 p.m.
ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 06/13/2016) and DEFINITIVE by Expert curation (dated 01/09/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/3216. This gene and information was sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 18 Jul 2017, 2:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to an early component of complement deficiency; ORPHA169147; OMIM 613652

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency due to an early component of complement deficiency
  • ORPHA169147
  • OMIM 613652
OMIM
120570
Clinvar variants
Variants in C1QB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C1QB was added to Inherited complement deficiencypanel. Sources: Other

18 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C1QB was created by ellenmcdonagh