COVID-19 researchGene: BCL10
Single patient described to date but high degree of confidence in pathogenicity & mechanism
Created: 19 Jun 2018, 5:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): BCL10 .PanelApp HGNC gene symbol check: BCL10 . IUIS Disease: BCL10 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, decreased memory and switched B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial and viral infections, candidiasis, gastroenteritis. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: keep Amber after external clinical review, noted there is a high degree of confidence in pathogenicity & mechanism.
Created: 20 Jun 2018, 2:58 p.m.
Reviewed and decided to keep amber until more info on gene and disease association, currently only one affected case in the literature PMID:25365219
Created: 11 May 2018, 2:29 p.m.
Comment on mode of inheritance: updated MOI to biallelic PMID: 25365219
Created: 11 May 2018, 2:19 p.m.
Comment on phenotypes: added phenotype from OMIM
Created: 11 May 2018, 2:18 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BCL10, GRID_Gene_Symbol: BCL10, GRID_Transcript_ENS_Community submitted: ENST00000370580, GRID_Transcript_RefSeq: NM_003921.4, GRID_Transcript_ENS_used_on_Production: ENST00000370580
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to BCL10. Added phenotypes Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098; Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: BCL10 was added gene: BCL10 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: BCL10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL10 were set to 32086639; 32048120; 25365219 Phenotypes for gene: BCL10 were set to Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098; Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity