Inherited complement deficiencyGene: C1QB
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
Immunodeficiency due to an early component of complement deficiency; ORPHA169147; OMIM 613652
This gene has been classified as Green List (High Evidence).
C1QB was added to Inherited complement deficiencypanel. Sources: Other
C1QB was created by ellenmcdonagh