ClinGen Gene Validity Curations

Gene: C1QB

Green List (high evidence)

C1QB (complement C1q B chain)
EnsemblGeneIds (GRCh38): ENSG00000173369
EnsemblGeneIds (GRCh37): ENSG00000173369
OMIM: 120570, Gene2Phenotype
C1QB is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information 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: 23 Jun 2017, 11:51 a.m.
Source: 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.
Created: 19 Apr 2017, 1:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • 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

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

C1QB was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 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).

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C1QB was added to ClinGen Gene Validity Curationspanel. Sources: Other

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C1QB was created by ellenmcdonagh